ClinVar Genomic variation as it relates to human health
NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile)
Variation ID: 13334 Accession: VCV000013334.49
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 12q24.13 12: 112450398 (GRCh38) [ NCBI UCSC ] 12: 112888202 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Apr 4, 2013 May 1, 2024 Oct 27, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_002834.5:c.218C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_002825.3:p.Thr73Ile missense NM_001330437.2:c.218C>T NP_001317366.1:p.Thr73Ile missense NM_001374625.1:c.215C>T NP_001361554.1:p.Thr72Ile missense NM_080601.3:c.218C>T NP_542168.1:p.Thr73Ile missense NC_000012.12:g.112450398C>T NC_000012.11:g.112888202C>T NG_007459.1:g.36667C>T LRG_614:g.36667C>T LRG_614t1:c.218C>T Q06124:p.Thr73Ile - Protein change
- T73I, T72I
- Other names
- p.T73I:ACT>ATT
- Canonical SPDI
- NC_000012.12:112450397:C:T
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
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Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
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The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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PTPN11 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
953 | 965 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Pathogenic (5) |
criteria provided, multiple submitters, no conflicts
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Oct 27, 2023 | RCV000014262.35 | |
Pathogenic (2) |
criteria provided, single submitter
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Jul 25, 2023 | RCV000033475.13 | |
Pathogenic (3) |
criteria provided, multiple submitters, no conflicts
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Apr 6, 2019 | RCV000156985.15 | |
Pathogenic (6) |
criteria provided, multiple submitters, no conflicts
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Mar 30, 2023 | RCV000212891.22 | |
Pathogenic (1) |
criteria provided, single submitter
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May 25, 2021 | RCV001813199.4 | |
Pathogenic (1) |
criteria provided, single submitter
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May 18, 2017 | RCV000515312.3 | |
Pathogenic (1) |
criteria provided, single submitter
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Apr 1, 2016 | RCV002415414.3 | |
Pathogenic (1) |
criteria provided, single submitter
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Nov 1, 2022 | RCV003147288.2 | |
Pathogenic (1) |
criteria provided, single submitter
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Nov 1, 2022 | RCV003147287.2 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Pathogenic
(Oct 28, 2016)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: not provided
Allele origin:
germline
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Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
Accession: SCV000511497.1
First in ClinVar: Mar 08, 2017 Last updated: Mar 08, 2017 |
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Pathogenic
(Oct 12, 2016)
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criteria provided, single submitter
Method: clinical testing
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Noonan syndrome
(Autosomal dominant inheritance)
Affected status: not provided
Allele origin:
germline
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Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV000200000.5
First in ClinVar: Jan 31, 2015 Last updated: Aug 26, 2019 |
Comment:
proposed classification - variant undergoing re-assessment, contact laboratory
Number of individuals with the variant: 10
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Pathogenic
(Apr 06, 2019)
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criteria provided, single submitter
Method: clinical testing
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Noonan syndrome
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000053297.3
First in ClinVar: Apr 04, 2013 Last updated: Nov 08, 2019 |
Comment:
Variant summary: PTPN11 c.218C>T (p.Thr73Ile) results in a non-conservative amino acid change located in the SH2 domain (IPR000980) of the encoded protein sequence. Five of … (more)
Variant summary: PTPN11 c.218C>T (p.Thr73Ile) results in a non-conservative amino acid change located in the SH2 domain (IPR000980) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 276806 control chromosomes. c.218C>T has been reported in the literature in multiple individuals affected with Noonan Syndrome and Juvenile Myelomonocyttic Leukema (JMML) (Tartaglia_2002, Tartaglia_2003, Niihori_2005, Kratz_2005, Kosaki_2002, Jongmans_2005). These data indicate that the variant is very likely to be associated with disease. At least one publication reports experimental evidence evaluating an impact on protein function. The most pronounced variant effect results in enhanced phosphatase activity of mutant SHP-2. Five clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. (less)
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Pathogenic
(Oct 02, 2021)
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criteria provided, single submitter
Method: clinical testing
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Noonan syndrome 1
Affected status: yes
Allele origin:
unknown
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3billion
Accession: SCV002012113.1
First in ClinVar: Nov 11, 2021 Last updated: Nov 11, 2021 |
Comment:
Same nucleotide change resulting in same amino acid change has been previously reported as de novoo and observed in at least four similarly affected unrelated … (more)
Same nucleotide change resulting in same amino acid change has been previously reported as de novoo and observed in at least four similarly affected unrelated individuals (ClinVar ID: VCV000013334.14, PMID: 25097206, 23446178, and 20383758, PS2, PS4). The missense variant is located in a mutational hot spot and/or well-established functional domain in which established pathogenic variants have been reported (PM1). It is not observed in the gnomAD v2.1.1 dataset (PM2). A different missense change at the same codon (p.Thr73Leu) has been reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000044604.2, PM5). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.956, 3Cnet: 0.996, PP3). Patient's phenotype is considered compatible with Noonan syndrome (3billion dataset, PP4).Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline. (less)
Clinical Features:
Failure to thrive (present) , Thrombocytopenia (present) , Hydronephrosis (present) , Delayed fine motor development (present) , Colpocephaly (present) , Rod-cone dystrophy (present) , Intellectual … (more)
Failure to thrive (present) , Thrombocytopenia (present) , Hydronephrosis (present) , Delayed fine motor development (present) , Colpocephaly (present) , Rod-cone dystrophy (present) , Intellectual disability (present) , Cryptorchidism (present) , Hypertelorism (present) , Delayed gross motor development (present) , Optic atrophy (present) , Microcephaly (present) , Macular hypoplasia (present) , Corpus callosum, agenesis of (present) , Delayed speech and language development (present) , Generalized hypotonia (present) , Depressed nasal bridge (present) , Atrial septal defect (present) , Hearing impairment (present) , Cardiac arrhythmia (present) , Short stature (present) (less)
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Pathogenic
(May 25, 2021)
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criteria provided, single submitter
Method: clinical testing
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Noonan syndrome and Noonan-related syndrome
Affected status: yes
Allele origin:
germline
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Genome Diagnostics Laboratory, The Hospital for Sick Children
Accession: SCV002060928.1
First in ClinVar: Jan 20, 2022 Last updated: Jan 20, 2022 |
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Pathogenic
(Nov 01, 2022)
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criteria provided, single submitter
Method: clinical testing
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Metachondromatosis
Affected status: unknown
Allele origin:
unknown
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Baylor Genetics
Accession: SCV003835334.1
First in ClinVar: Mar 11, 2023 Last updated: Mar 11, 2023 |
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Pathogenic
(Nov 01, 2022)
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criteria provided, single submitter
Method: clinical testing
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LEOPARD syndrome 1
Affected status: unknown
Allele origin:
unknown
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Baylor Genetics
Accession: SCV003835870.1
First in ClinVar: Mar 11, 2023 Last updated: Mar 11, 2023 |
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Pathogenic
(Nov 01, 2022)
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criteria provided, single submitter
Method: clinical testing
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Noonan syndrome 1
Affected status: unknown
Allele origin:
unknown
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Baylor Genetics
Accession: SCV001522576.2
First in ClinVar: Mar 22, 2021 Last updated: Mar 11, 2023 |
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Pathogenic
(Mar 30, 2023)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV000057380.17
First in ClinVar: Apr 04, 2013 Last updated: Apr 15, 2023 |
Comment:
Identified in patients with Noonan spectrum disorders in published literature (Tartaglia et al., 2002; Kratz et al., 2005); Published functional studies demonstrate the variant results … (more)
Identified in patients with Noonan spectrum disorders in published literature (Tartaglia et al., 2002; Kratz et al., 2005); Published functional studies demonstrate the variant results in increased activity compared to wild type (Keilhack et al., 2005); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Missense variants in this gene are often considered pathogenic (HGMD); This variant is associated with the following publications: (PMID: 35050212, 34850017, 32164556, 23832011, 23446178, 24803665, 24718990, 26286251, 15928039, 20383758, 30355600, 28106910, 26918529, 30050098, 30378271, 29907801, 31219622, 31560489, 32144894, 32901917, 28191889, 35792504, 34974531, 11992261, 9491886, 29493581, 16053901, 15987685) (less)
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Pathogenic
(Oct 27, 2023)
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criteria provided, single submitter
Method: clinical testing
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Noonan syndrome 1
(Autosomal dominant inheritance)
Affected status: yes
Allele origin:
unknown
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Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital
Accession: SCV004098990.1
First in ClinVar: Oct 28, 2023 Last updated: Oct 28, 2023 |
Comment:
This heterozygous mis-sense variant is identified in a 3 month male with congenital heart disease, facial dysmorphism, FTT, juvenial myelomonocytic leukemia and echogenic kidney. This … (more)
This heterozygous mis-sense variant is identified in a 3 month male with congenital heart disease, facial dysmorphism, FTT, juvenial myelomonocytic leukemia and echogenic kidney. This nucleotide change is absent in gnomAD database [PM2]. Insilico prediction [REVEL=0.95] predicts deleterious nature of this variant [PP3: Strong]. A clinvar entry for this variant is available. This variant is submitted to clinvar database [Variation ID: 13334] with “conflicting interpretation of pathogenicity, ”Pathogenic (14); Uncertain Significance (1)” interpretation by multiple submitter [PP5]. Based on the clinical correlation and available evidence, this variant is classified as "Pathogenic". (less)
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Pathogenic
(Sep 21, 2019)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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Revvity Omics, Revvity
Accession: SCV002019557.3
First in ClinVar: Nov 29, 2021 Last updated: Feb 04, 2024 |
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Pathogenic
(Jul 25, 2023)
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criteria provided, single submitter
Method: clinical testing
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RASopathy
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV000821663.6
First in ClinVar: Oct 10, 2018 Last updated: Feb 14, 2024 |
Comment:
This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with Noonan syndrome, Noonan-syndrome associated myeloproliferative … (more)
This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with Noonan syndrome, Noonan-syndrome associated myeloproliferative disorder (PMID: 11992261, 14644997, 15240615, 15928039, 17020470, 17339163, 20383758, 23446178, 23832011). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 13334). Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (Invitae) indicates that this missense variant is expected to disrupt PTPN11 function. Experimental studies have shown that this missense change affects PTPN11 function (PMID: 15987685, 24718990). For these reasons, this variant has been classified as Pathogenic. This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 73 of the PTPN11 protein (p.Thr73Ile). (less)
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Pathogenic
(Oct 01, 2022)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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CeGaT Center for Human Genetics Tuebingen
Accession: SCV002821737.8
First in ClinVar: Jan 21, 2023 Last updated: Apr 15, 2024 |
Comment:
PTPN11: PM1, PM2, PS3:Moderate, PS4:Moderate, PP2, PP3
Number of individuals with the variant: 1
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Pathogenic
(Apr 01, 2016)
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criteria provided, single submitter
Method: clinical testing
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Cardiovascular phenotype
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV002725347.2
First in ClinVar: Nov 29, 2022 Last updated: May 01, 2024 |
Comment:
The p.T73I pathogenic mutation (also known as c.218C>T), located in coding exon 3 of the PTPN11 gene, results from a C to T substitution at … (more)
The p.T73I pathogenic mutation (also known as c.218C>T), located in coding exon 3 of the PTPN11 gene, results from a C to T substitution at nucleotide position 218. The threonine at codon 73 is replaced by isoleucine, an amino acid with similar properties. This mutation has been described in the literature in multiple individuals with Noonan syndrome (Tartaglia M, Am. J. Hum. Genet. 2002 Jun; 70(6):1555-63; Kosaki K, J. Clin. Endocrinol. Metab. 2002 Aug; 87(8):3529-33) as well as in Noonan patients with accompanying Myeloproliferative disorders (MPD) or Juvenile myelomonocytic leukemia (JMML) (Kratz CP, Blood 2005 Sep; 106(6):2183-5. T; Niihori T, J. Hum. Genet. 2005; 50(4):192-202). This alteration has also been reported as a somatic mutation in individuals with hematologic malignancies (Tartaglia M, Am. J. Hum. Genet. 2006 Feb; 78(2):279-90). In addition, functional studies have shown a statistically significant increase in phosphatase activity in cells expressing the p.T73I mutation, when compared to wild-type (Niihori T, J. Hum. Genet. 2005; 50(4):192-202; Tartaglia M, Am. J. Hum. Genet. 2006 Feb; 78(2):279-90). Based on the supporting evidence, p.T73I is interpreted as a disease-causing mutation. (less)
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Pathogenic
(May 18, 2017)
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criteria provided, single submitter
Method: clinical testing
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LEOPARD syndrome 1
Metachondromatosis Noonan syndrome 1 Juvenile myelomonocytic leukemia
Affected status: unknown
Allele origin:
unknown
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Fulgent Genetics, Fulgent Genetics
Accession: SCV000611305.1
First in ClinVar: Nov 11, 2017 Last updated: Nov 11, 2017 |
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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Rasopathy
Affected status: yes
Allele origin:
unknown
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Baylor Genetics
Accession: SCV000196660.1
First in ClinVar: Jan 16, 2015 Last updated: Jan 16, 2015 |
Comment:
Variant classified using ACMG guidelines
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Pathogenic
(Jun 12, 2012)
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no assertion criteria provided
Method: clinical testing
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Noonan syndrome
Affected status: yes
Allele origin:
germline
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ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV000206707.1
First in ClinVar: Jan 31, 2015 Last updated: Jan 31, 2015 |
Number of individuals with the variant: 1
Clinical Features:
Abnormality of coagulation (present) , Global developmental delay (present) , Pulmonic stenosis (present)
Family history: no
Sex: female
Ethnicity/Population group: Hispanic
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Pathogenic
(Apr 15, 2005)
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no assertion criteria provided
Method: literature only
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NOONAN SYNDROME 1
Affected status: not provided
Allele origin:
germline
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OMIM
Accession: SCV000034510.2
First in ClinVar: Apr 04, 2013 Last updated: Sep 09, 2019 |
Comment on evidence:
In a Japanese patient with sporadic Noonan syndrome (NS1; 163950), Kosaki et al. (2002) identified a 218C-T transition in exon 3 of the PTPN11 gene, … (more)
In a Japanese patient with sporadic Noonan syndrome (NS1; 163950), Kosaki et al. (2002) identified a 218C-T transition in exon 3 of the PTPN11 gene, resulting in a thr73-to-ile (T73I) substitution. In 4 children with Noonan syndrome who developed juvenile myelomonocytic leukemia, Tartaglia et al. (2003) observed a heterozygous germline T73I mutation, which alters the N-terminal Src homology 2 (SH2) domain. The T73I mutation was also identified in an individual with growth retardation, pulmonic stenosis, and JMML. Analysis of germline and parental DNAs indicated that the mutations were de novo germline events. Jongmans et al. (2005) described a patient with Noonan syndrome and mild JMML who carried the T73I mutation. (less)
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001743328.3 First in ClinVar: Jul 07, 2021 Last updated: Sep 08, 2021 |
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001953497.1 First in ClinVar: Oct 02, 2021 Last updated: Oct 02, 2021 |
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not provided
(-)
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no classification provided
Method: not provided
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Noonan syndrome 1
Affected status: not provided
Allele origin:
germline
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Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP)
Accession: SCV000143816.1
First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014 |
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Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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Juvenile myelomonocytic leukaemia and Noonan syndrome. | Strullu M | Journal of medical genetics | 2014 | PMID: 25097206 |
Noonan and LEOPARD syndrome Shp2 variants induce heart displacement defects in zebrafish. | Bonetti M | Development (Cambridge, England) | 2014 | PMID: 24718990 |
Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia. | Sakaguchi H | Nature genetics | 2013 | PMID: 23832011 |
A de novo T73I mutation in PTPN11 in a neonate with severe and prolonged congenital thrombocytopenia and Noonan syndrome. | Christensen RD | Neonatology | 2013 | PMID: 23446178 |
Giant cell lesions in noonan syndrome: case report and review of the literature. | Bufalino A | Head and neck pathology | 2010 | PMID: 20383758 |
Relapsed childhood high hyperdiploid acute lymphoblastic leukemia: presence of preleukemic ancestral clones and the secondary nature of microdeletions and RTK-RAS mutations. | Davidsson J | Leukemia | 2010 | PMID: 20237506 |
Noonan, Costello and cardio-facio-cutaneous syndromes: dysregulation of the Ras-MAPK pathway. | Tidyman WE | Expert reviews in molecular medicine | 2008 | PMID: 19063751 |
Use of human androgen receptor gene analysis to aid the diagnosis of JMML in female noonan syndrome patients. | Lavin VA | Pediatric blood & cancer | 2008 | PMID: 18454468 |
Analysis of the PTPN11 gene in idiopathic short stature children and Noonan syndrome patients. | Ferreira LV | Clinical endocrinology | 2008 | PMID: 18331608 |
Characterization of acute myeloid leukemia with PTPN11 mutation: the mutation is closely associated with NPM1 mutation but inversely related to FLT3/ITD. | Hou HA | Leukemia | 2008 | PMID: 17972951 |
Mutations of FLT3, NRAS, KRAS, and PTPN11 are frequent and possibly mutually exclusive in high hyperdiploid childhood acute lymphoblastic leukemia. | Paulsson K | Genes, chromosomes & cancer | 2008 | PMID: 17910045 |
[Phenotype variability in Noonan syndrome patients with and without PTPN11 mutation]. | Ferreira LV | Arquivos brasileiros de endocrinologia e metabologia | 2007 | PMID: 17546245 |
Mutational analysis of PTPN11 gene in Taiwanese children with Noonan syndrome. | Hung CS | Journal of the Formosan Medical Association = Taiwan yi zhi | 2007 | PMID: 17339163 |
The role of Shp2 (PTPN11) in cancer. | Mohi MG | Current opinion in genetics & development | 2007 | PMID: 17227708 |
Noonan syndrome. | van der Burgt I | Orphanet journal of rare diseases | 2007 | PMID: 17222357 |
PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype. | Bertola DR | Genetic testing | 2006 | PMID: 17020470 |
PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects. | Kontaridis MI | The Journal of biological chemistry | 2006 | PMID: 16377799 |
Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. | Tartaglia M | American journal of human genetics | 2006 | PMID: 16358218 |
Differences in the prevalence of PTPN11 mutations in FAB M5 paediatric acute myeloid leukaemia. | Goemans BF | British journal of haematology | 2005 | PMID: 16115145 |
Diverse biochemical properties of Shp2 mutants. Implications for disease phenotypes. | Keilhack H | The Journal of biological chemistry | 2005 | PMID: 15987685 |
Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient. | Bertola DR | American journal of medical genetics. Part A | 2005 | PMID: 15948193 |
The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease. | Kratz CP | Blood | 2005 | PMID: 15928039 |
Somatic PTPN11 mutations in childhood acute myeloid leukaemia. | Tartaglia M | British journal of haematology | 2005 | PMID: 15842656 |
Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia. | Niihori T | Journal of human genetics | 2005 | PMID: 15834506 |
Acquired PTPN11 mutations occur rarely in adult patients with myelodysplastic syndromes and chronic myelomonocytic leukemia. | Loh ML | Leukemia research | 2005 | PMID: 15725481 |
Genotypic and phenotypic characterization of Noonan syndrome: new data and review of the literature. | Jongmans M | American journal of medical genetics. Part A | 2005 | PMID: 15723289 |
Genetics and variation in phenotype in Noonan syndrome. | Jongmans M | Hormone research | 2004 | PMID: 15539800 |
PTPN11 mutations in pediatric patients with acute myeloid leukemia: results from the Children's Cancer Group. | Loh ML | Leukemia | 2004 | PMID: 15385933 |
Protein-tyrosine phosphatase, nonreceptor type 11 mutation analysis and clinical assessment in 45 patients with Noonan syndrome. | Yoshida R | The Journal of clinical endocrinology and metabolism | 2004 | PMID: 15240615 |
Mutations in PTPN11 are uncommon in adult myelodysplastic syndromes and acute myeloid leukaemia. | Johan MF | British journal of haematology | 2004 | PMID: 15009076 |
SHP-2 and myeloid malignancies. | Tartaglia M | Current opinion in hematology | 2004 | PMID: 14676626 |
Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis. | Loh ML | Blood | 2004 | PMID: 14644997 |
Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. | Tartaglia M | Nature genetics | 2003 | PMID: 12717436 |
PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome. | Kosaki K | The Journal of clinical endocrinology and metabolism | 2002 | PMID: 12161469 |
PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. | Tartaglia M | American journal of human genetics | 2002 | PMID: 11992261 |
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Text-mined citations for rs121918462 ...
HelpRecord last updated May 01, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.