ClinVar Genomic variation as it relates to human health
NM_005633.4(SOS1):c.1655G>A (p.Arg552Lys)
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_005633.4(SOS1):c.1655G>A (p.Arg552Lys)
Variation ID: 40683 Accession: VCV000040683.36
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 2p22.1 2: 39022773 (GRCh38) [ NCBI UCSC ] 2: 39249914 (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 Jan 31, 2015 Feb 14, 2024 May 10, 2019 - HGVS
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Nucleotide Protein Molecular
consequenceNM_005633.4:c.1655G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_005624.2:p.Arg552Lys missense NM_001382394.1:c.1634G>A NP_001369323.1:p.Arg545Lys missense NM_001382395.1:c.1655G>A NP_001369324.1:p.Arg552Lys missense NC_000002.12:g.39022773C>T NC_000002.11:g.39249914C>T NG_007530.1:g.102691G>A LRG_754:g.102691G>A LRG_754t1:c.1655G>A LRG_754p1:p.Arg552Lys Q07889:p.Arg552Lys - Protein change
- R552K, R545K
- Other names
- p.R552K:AGG>AAG
- NM_005633.3(SOS1):c.1655G>A
- Canonical SPDI
- NC_000002.12:39022772: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
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The frequency of the allele represented by this VCV record.
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Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
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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
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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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SOS1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1591 | 1691 |
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 (3) |
reviewed by expert panel
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May 10, 2019 | RCV000157017.14 | |
Pathogenic (5) |
criteria provided, multiple submitters, no conflicts
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Mar 15, 2018 | RCV000159175.9 | |
Pathogenic (1) |
criteria provided, single submitter
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Feb 20, 2017 | RCV000587705.1 | |
Pathogenic (2) |
criteria provided, single submitter
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- | RCV000856745.2 | |
Pathogenic (1) |
criteria provided, single submitter
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Jul 25, 2023 | RCV001062868.5 | |
Pathogenic (3) |
criteria provided, multiple submitters, no conflicts
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Jun 24, 2022 | RCV001169984.7 | |
Pathogenic (1) |
criteria provided, single submitter
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Apr 17, 2018 | RCV001335308.1 |
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
(May 10, 2019)
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reviewed by expert panel
Method: curation
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Noonan syndrome
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
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ClinGen RASopathy Variant Curation Expert Panel
Accession: SCV000927028.1
First in ClinVar: Jul 22, 2019 Last updated: Jul 22, 2019 |
Comment:
The c.1655G>A (p.Arg552Lys) variant in SOS1 has been reported as a confirmed de novo occurrence in at least 2 patients with clinical features of a … (more)
The c.1655G>A (p.Arg552Lys) variant in SOS1 has been reported as a confirmed de novo occurrence in at least 2 patients with clinical features of a RASopathy (PS2_VeryStrong; PMID 17586837, 17143282, 30266093, 26686981). This variant has been detected in at least 7 independent occurrences with clinical features of a RASopathy (PS4; PMIDs: 17586837, 22420426, 28378436, 29037749, 25337068, 21387466, 21784453, 26918529, 21274610). In vitro functional studies provide some evidence that the p.Arg552Lys variant may impact protein function (PS3; PMID: 21784453). This residue has been defined as a PM1 hotspot by the RAS VCEP. These variants would have received PM5_Strong but the RAS EP decided that PM1 and PM5 cannot be used simultaneously and therefore this rule has been upgraded with expert judgement (PM1_Strong). This variant was absent from large population studies (PM2; gnomAD, http://gnomad.broadinstitute.org). Computational prediction tools and conservation analysis suggest that the p.Arg552Lys variant may impact the protein (PP3). The variant is located in the SOS1 gene, which has been defined by the ClinGen RASopathy Expert Panel as a gene with a low rate of benign missense variants and pathogenic missense variants are common (PP2; PMID: 29493581). In summary, this variant meets criteria to be classified as pathogenic for RASopathies in an autosomal dominant manner. Rasopathy-specific ACMG/AMP criteria applied (PMID:29493581): PS2_VeryStrong, PS4, PS3, PM1_Strong, PM2, PP2, PP3. (less)
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Pathogenic
(Sep 08, 2011)
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criteria provided, single submitter
Method: clinical testing
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Noonan syndrome
Affected status: not provided
Allele origin:
germline
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Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV000062200.6
First in ClinVar: May 03, 2013 Last updated: Aug 26, 2019 |
Comment:
The Arg552Lys variant in SOS1 has been reported in at least six individuals with clinical features of Noonan syndrome, four of whom were reported to … (more)
The Arg552Lys variant in SOS1 has been reported in at least six individuals with clinical features of Noonan syndrome, four of whom were reported to have occurr ed de novo (Tartaglia 2007, Zenker 2007, Lepri 2011). In addition this variant was absent from 600 control chromosomes (Lepri 2011). Furthermore, different ami no acid changes at this location (Arg552Gly, Arg552Thr and Arg552Ser) have also been associated with clinical features of Noonan syndrome (Roberts 2007, Zenker 2007, Tartaglia 2007, Beneteau 2009, Lepri 2011). Protein modeling suggests that amino acid residue 552 plays an important role in structural formation of the p rotein (Lepri 2011). Therefore, it is highly likely that this variant is pathog enic. The presence of a heterozygous pathogenic variant in SOS1 is consistent wi th a diagnosis of Noonan syndrome, but this information should be reconciled wit h the complete clinical history of this individual. (less)
Number of individuals with the variant: 6
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Pathogenic
(Apr 17, 2018)
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criteria provided, single submitter
Method: clinical testing
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Fibromatosis, gingival, 1
Affected status: yes
Allele origin:
de novo
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Baylor Genetics
Accession: SCV001528428.1
First in ClinVar: Mar 22, 2021 Last updated: Mar 22, 2021 |
Comment:
This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. This variant has been previously reported as a de novo finding in … (more)
This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. This variant has been previously reported as a de novo finding in patients with Noonan syndrome [PMID 17143282, 26686981] (less)
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Pathogenic
(Jun 24, 2022)
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criteria provided, single submitter
Method: clinical testing
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Noonan syndrome 4
(Autosomal dominant inheritance)
Affected status: yes
Allele origin:
germline
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Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
Additional submitter:
Shariant Australia, Australian Genomics
Accession: SCV002557817.1
First in ClinVar: Aug 08, 2022 Last updated: Aug 08, 2022 |
Comment:
Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as Pathogenic. Following criteria are met: 0101 - Gain of function is a known mechanism … (more)
Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as Pathogenic. Following criteria are met: 0101 - Gain of function is a known mechanism of disease in this gene and is associated with Noonan syndrome 4 (MIM#610733). (I) 0107 - This gene is associated with autosomal dominant disease. (I) 0115 - Variants in this gene are known to have variable expressivity. Due to ascertainment bias and variable expressivity with frequent subtlety of features, the penetrance of Noonan syndrome is difficult to determine; affected adults are often diagnosed only after the diagnosis of a more severely affected child (GeneReviews). (I) 0200 - Variant is predicted to result in a missense amino acid change from arginine to lysine. (I) 0251 - This variant is heterozygous. (I) 0301 - Variant is absent from gnomAD (both v2 and v3). (SP) 0309 - Three alternative amino acid changes at the same position have been observed in gnomAD (v2 and v3) (same allele frequency in all: 1 heterozygote, 0 homozygote). (I) 0501 - Missense variant consistently predicted to be damaging by multiple in silico tools and very highly conserved with a minor amino acid change. (SP) 0604 - Variant is not located in an established domain, motif, hotspot or informative constraint region. (I) 0701 - Multiple missense variants comparable to the one identified in this case have very strong previous evidence for pathogenicity. Multiple missense changes at this amino acid have been reported in ClinVar as pathogenic. (SP) 0801 - This variant has strong previous evidence of pathogenicity in unrelated individuals. This variant has been reported multiple times as pathogenic in individuals with Noonan syndrome (ClinVar, DECIPHER, PMID: 31292302). (SP) 1203 - This variant has been shown to be de novo in the proband (parental status confirmed) (by trio analysis). (SP) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign (less)
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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: SCV001227691.5
First in ClinVar: Apr 15, 2020 Last updated: Feb 14, 2024 |
Comment:
For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Arg552 amino acid residue in SOS1. Other variant(s) that disrupt this … (more)
For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Arg552 amino acid residue in SOS1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 19020799, 21387466, 22190897, 24037001). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt SOS1 protein function. ClinVar contains an entry for this variant (Variation ID: 40683). This missense change has been observed in individual(s) with Noonan syndrome (PMID: 26686981, 30266093). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with lysine, which is basic and polar, at codon 552 of the SOS1 protein (p.Arg552Lys). (less)
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Pathogenic
(Feb 20, 2017)
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criteria provided, single submitter
Method: clinical testing
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Noonan syndrome 3
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000698615.1
First in ClinVar: Mar 17, 2018 Last updated: Mar 17, 2018 |
Comment:
Variant summary: The SOS1 c.1655G>A (p.Arg552Lys) variant lies in the helical linker between the PH and Rem domains and is predicted to interact directly with … (more)
Variant summary: The SOS1 c.1655G>A (p.Arg552Lys) variant lies in the helical linker between the PH and Rem domains and is predicted to interact directly with the side chains of Asp140 and Asp169 in the histone domain of SOS1 (ref. 16). Disruption of this interaction could affect the relative orientation of the DH-PH unit and the Rem domain (Tartaglia_207). This change involves the alteration of a conserved nucleotide with 2/4 in silico tools (SNPs&GO not captured due to low reliability index) predicting a deleterious outcome, although these predictions have yet to be functionally assessed. The variant of interest was not observed in controls (ExAC, 1000 Gs, or ESP), but multiple publications cite the variant as causative in affected individuals including at least one de novo event and a mother-child affected duo. In addition, Arg552 appears to be a mutational hot-spot as other alterations of the same codon, such as p.Arg552Gly and p.Arg552Ser were identified as causative in multiple NS pts and were shown to increase in the basal level of active RAS and prolonged RAS activation after EGF stimulation in functional studies (Tartaglia_ 2007). Lastly, multiple clinical diagnostic laboratories classified this variant as pathogenic. Taken together, this variant is classified as pathogenic. (less)
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Pathogenic
(Oct 14, 2015)
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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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Eurofins Ntd Llc (ga)
Accession: SCV000336466.4
First in ClinVar: Dec 06, 2016 Last updated: Dec 15, 2018 |
Number of individuals with the variant: 1
Sex: mixed
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Pathogenic
(May 15, 2017)
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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: SCV000209120.12
First in ClinVar: Feb 24, 2015 Last updated: Dec 15, 2018 |
Comment:
The R552K variant has been published as a pathogenic variant in association with Noonan syndrome, including de novo observations (Tartaglia et al., 2007; Lepri et … (more)
The R552K variant has been published as a pathogenic variant in association with Noonan syndrome, including de novo observations (Tartaglia et al., 2007; Lepri et al., 2011; Zenker et al., 2007). The R552K variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R552K variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Pathogenic missense nvariants at this residue (R552G/M/T/S/W) and in nearby residues (S548R, T549K, L550P) have been reported in the Human Gene Mutation Database in association with Noonan Syndrome (Stenson et al., 2014), supporting the functional importance of this region of the protein. In summary, based on the currently available information, this variant is pathogenic and consistent with the diagnosis of a RASopathy. (less)
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Pathogenic
(Mar 15, 2018)
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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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Blueprint Genetics
Accession: SCV000927595.1
First in ClinVar: Jul 25, 2019 Last updated: Jul 25, 2019 |
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Pathogenic
(-)
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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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Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn
Accession: SCV000999293.1
First in ClinVar: Nov 30, 2019 Last updated: Nov 30, 2019 |
Number of individuals with the variant: 1
Clinical Features:
Hypertelorism (present) , Cryptorchidism (present) , Cranial asymmetry (present) , Polyhydramnios (present) , Brachycephaly (present) , Anteverted nares (present) , Prominent ear helix (present) , … (more)
Hypertelorism (present) , Cryptorchidism (present) , Cranial asymmetry (present) , Polyhydramnios (present) , Brachycephaly (present) , Anteverted nares (present) , Prominent ear helix (present) , Thin upper lip vermilion (present) , Ptosis (present) (less)
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Pathogenic
(May 03, 2020)
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criteria provided, single submitter
Method: clinical testing
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Noonan syndrome 4
Affected status: yes
Allele origin:
unknown
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Genomic Research Center, Shahid Beheshti University of Medical Sciences
Accession: SCV001251797.1
First in ClinVar: May 31, 2020 Last updated: May 31, 2020 |
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Pathogenic
(Apr 26, 2021)
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criteria provided, single submitter
Method: clinical testing
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Noonan syndrome 4
Affected status: yes
Allele origin:
de novo
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Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
Accession: SCV001737097.2
First in ClinVar: Jun 19, 2021 Last updated: Mar 26, 2023 |
Method: Exome sequencing
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Pathogenic
(May 25, 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: SCV000206744.1
First in ClinVar: Jan 31, 2015 Last updated: Jan 31, 2015 |
Number of individuals with the variant: 1
Clinical Features:
Abnormality of the face (present) , Global developmental delay (present)
Family history: unknown
Sex: male
Ethnicity/Population group: Hispanic
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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: SCV001959103.1 First in ClinVar: Oct 02, 2021 Last updated: Oct 02, 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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Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
Study: VKGL Data-share Consensus
Accession: SCV001798141.1 First in ClinVar: Aug 21, 2021 Last updated: Aug 21, 2021 |
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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Noonan syndrome 1
(Autosomal dominant inheritance)
Affected status: yes
Allele origin:
de novo
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Molecular Genetics, Centre for Human Genetics
Accession: SCV004190100.1
First in ClinVar: Dec 24, 2023 Last updated: Dec 24, 2023 |
Number of individuals with the variant: 1
Secondary finding: no
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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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Genotype-phenotype correlation analysis in Japanese patients with Noonan syndrome. | Shoji Y | Endocrine journal | 2019 | PMID: 31292302 |
Comparative assessment of gene-specific variant distribution in prenatal and postnatal cohorts tested for Noonan syndrome and related conditions. | Leach NT | Genetics in medicine : official journal of the American College of Medical Genetics | 2019 | PMID: 29907801 |
Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder. | Normand EA | Genome medicine | 2018 | PMID: 30266093 |
Psychopathological features in Noonan syndrome. | Perrino F | European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society | 2018 | PMID: 29037749 |
Visual perception skills: a comparison between patients with Noonan syndrome and 22q11.2 deletion syndrome. | Piccini G | Genes, brain, and behavior | 2017 | PMID: 28378436 |
RASopathy Gene Mutations in Melanoma. | Halaban R | The Journal of investigative dermatology | 2016 | PMID: 27236105 |
Retrospective study of prenatal ultrasound findings in newborns with a Noonan spectrum disorder. | Hakami F | Prenatal diagnosis | 2016 | PMID: 26918529 |
Coronary artery ectasia in Noonan syndrome: Report of an individual with SOS1 mutation and literature review. | Calcagni G | American journal of medical genetics. Part A | 2016 | PMID: 26686981 |
Exome sequencing identifies recurrent mutations in NF1 and RASopathy genes in sun-exposed melanomas. | Krauthammer M | Nature genetics | 2015 | PMID: 26214590 |
Clinical and Molecular Findings of Tunisian Patients with RASopathies. | Louati R | Molecular syndromology | 2014 | PMID: 25337068 |
Tegumentary manifestations of Noonan and Noonan-related syndromes. | Quaio CR | Clinics (Sao Paulo, Brazil) | 2013 | PMID: 24037001 |
Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings. | Croonen EA | European journal of human genetics : EJHG | 2013 | PMID: 23321623 |
RASopathies: Clinical Diagnosis in the First Year of Life. | Digilio MC | Molecular syndromology | 2011 | PMID: 22190897 |
Spectrum of mutations in Noonan syndrome and their correlation with phenotypes. | Lee BH | The Journal of pediatrics | 2011 | PMID: 21784453 |
SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations. | Lepri F | Human mutation | 2011 | PMID: 21387466 |
Long term memory profile of disorders associated with dysregulation of the RAS-MAPK signaling cascade. | Alfieri P | Behavior genetics | 2011 | PMID: 21274610 |
SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions. | Beneteau C | European journal of human genetics : EJHG | 2009 | PMID: 19352411 |
PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome. | Ko JM | Journal of human genetics | 2008 | PMID: 19020799 |
SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome. | Zenker M | Journal of medical genetics | 2007 | PMID: 17586837 |
Germline gain-of-function mutations in SOS1 cause Noonan syndrome. | Roberts AE | Nature genetics | 2007 | PMID: 17143285 |
Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. | Tartaglia M | Nature genetics | 2007 | PMID: 17143282 |
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=SOS1 | - | - | - | - |
https://erepo.clinicalgenome.org/evrepo/ui/interpretation/1065305a-be0c-4399-99c0-352adbd087b7 | - | - | - | - |
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Text-mined citations for rs397517154 ...
HelpRecord last updated Feb 20, 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.