ClinVar Genomic variation as it relates to human health
NM_000363.5(TNNI3):c.497C>T (p.Ser166Phe)
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_000363.5(TNNI3):c.497C>T (p.Ser166Phe)
Variation ID: 177630 Accession: VCV000177630.35
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 19q13.42 19: 55154082 (GRCh38) [ NCBI UCSC ] 19: 55665450 (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 May 29, 2016 Feb 20, 2024 Jan 8, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000363.5:c.497C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000354.4:p.Ser166Phe missense NC_000019.10:g.55154082G>A NC_000019.9:g.55665450G>A NG_007866.2:g.8651C>T NG_011829.2:g.157C>T LRG_432:g.8651C>T LRG_432t1:c.497C>T LRG_679:g.157C>T P19429:p.Ser166Phe - Protein change
- S166F
- Other names
- p.S166F:TCC>TTC
- Canonical SPDI
- NC_000019.10:55154081:G:A
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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.
Exome Aggregation Consortium (ExAC) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00001
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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TNNI3 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
663 | - |
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/Likely pathogenic (9) |
criteria provided, multiple submitters, no conflicts
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Dec 19, 2022 | RCV000159230.19 | |
Pathogenic/Likely pathogenic (2) |
criteria provided, multiple submitters, no conflicts
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Jan 8, 2024 | RCV000628993.12 | |
Likely pathogenic (2) |
criteria provided, multiple submitters, no conflicts
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Dec 30, 2021 | RCV000709766.2 | |
Pathogenic/Likely pathogenic (2) |
criteria provided, multiple submitters, no conflicts
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Aug 8, 2023 | RCV001798495.5 | |
Likely pathogenic (1) |
criteria provided, single submitter
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Oct 17, 2022 | RCV002336315.1 |
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
(Jun 17, 2021)
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criteria provided, single submitter
Method: clinical testing
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not provided
(Autosomal dominant inheritance)
Affected status: yes
Allele origin:
germline
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Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
Accession: SCV001762182.1
First in ClinVar: Jul 30, 2021 Last updated: Jul 30, 2021 |
Clinical Features:
Hypertrophic cardiomyopathy (present) , Paroxysmal atrial fibrillation (present) , Paroxysmal supraventricular tachycardia (present)
Sex: male
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Likely pathogenic
(Dec 30, 2021)
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criteria provided, single submitter
Method: clinical testing
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Hypertrophic cardiomyopathy 7
Affected status: yes
Allele origin:
germline
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MGZ Medical Genetics Center
Accession: SCV002580479.1
First in ClinVar: Oct 15, 2022 Last updated: Oct 15, 2022 |
Number of individuals with the variant: 2
Sex: male
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Likely pathogenic
(Oct 17, 2022)
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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: SCV002644006.1
First in ClinVar: Nov 29, 2022 Last updated: Nov 29, 2022 |
Comment:
The p.S166F variant (also known as c.497C>T), located in coding exon 7 of the TNNI3 gene, results from a C to T substitution at nucleotide … (more)
The p.S166F variant (also known as c.497C>T), located in coding exon 7 of the TNNI3 gene, results from a C to T substitution at nucleotide position 497. The serine at codon 166 is replaced by phenylalanine, an amino acid with highly dissimilar properties. This alteration has been reported in hypertrophic cardiomyopathy (HCM) cohorts and has been described as a Finnish founder mutation (Erdmann J, Clin. Genet. 2003 Oct; 64(4):339-49; Van Driest SL, J. Am. Coll. Cardiol. 2004 Nov; 44(9):1903-10; Mogensen J, J. Am. Coll. Cardiol. 2004 Dec; 44(12):2315-25; van den Wijngaard A, Neth Heart J 2011 Aug; 19(7-8):344-51; Maron BJ, Heart Rhythm 2012 Jan;9(1):57-63). This alteration was also reported once in a sudden infant death syndrome (SIDS) cohort (Brion M, Forensic Sci. Int. 2012 Jun; 219(1-3):278-81). In some of the reported cases, the p.S166F alteration was seen in individuals who also had variants in other cardiac-related genes (Erdmann J, Clin. Genet. 2003 Oct; 64(4):339-49; Van Driest SL, J. Am. Coll. Cardiol. 2004 Nov; 44(9):1903-10; Maron BJ, Heart Rhythm 2012 Jan;9(1):57-63). In addition, this alteration has been shown to have an impact on protein function ( Liu B, PLoS ONE 2012 Jun; 7(6):e38259). This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the majority of available evidence to date, this variant is likely to be pathogenic. (less)
Number of individuals with the variant: 1
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Pathogenic
(Dec 19, 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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GeneDx
Accession: SCV000209176.14
First in ClinVar: Feb 24, 2015 Last updated: Mar 11, 2023 |
Comment:
Not observed at significant frequency in large population cohorts (gnomAD); Published functional studies demonstrated that p.(S166F) significantly increased the calcium sensitivity and slowed the rate … (more)
Not observed at significant frequency in large population cohorts (gnomAD); Published functional studies demonstrated that p.(S166F) significantly increased the calcium sensitivity and slowed the rate of calcium dissociation from the Troponin complex, and may influence TnC-TnI interactions (Liu et al., 2012); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 11121119, 24510615, 31737537, 22361390, 22675533, 15607392, 15519027, 12860912, 12974739, 21839045, 26526134, 19914256, 26914223, 27532257, 30847666, 31447099, 33662488, 36411388, 35626289, 35470684, 21533915) (less)
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Pathogenic
(Jun 06, 2023)
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criteria provided, single submitter
Method: clinical testing
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Cardiomyopathy
Affected status: unknown
Allele origin:
germline
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CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario
Accession: SCV002042738.3
First in ClinVar: Dec 29, 2021 Last updated: Feb 04, 2024 |
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Likely pathogenic
(Jan 18, 2018)
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criteria provided, single submitter
Method: clinical testing
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Hypertrophic cardiomyopathy 7
Affected status: unknown
Allele origin:
germline
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Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine
Accession: SCV000840075.1
First in ClinVar: Oct 14, 2018 Last updated: Oct 14, 2018 |
Comment:
The c.497C>T (p.Ser166Phe) variant has been reported in several patients with hypertrophic cardiomyopathy (HCM) [PMID 21533915, 12974739, 26914223]. One of the reported patient also carried … (more)
The c.497C>T (p.Ser166Phe) variant has been reported in several patients with hypertrophic cardiomyopathy (HCM) [PMID 21533915, 12974739, 26914223]. One of the reported patient also carried a variant in MYH7 (p.Cys905Phe) [PMID 12974739]. The variant was detected in 4/1,040 patients in the Netherland and is consider a founder mutation in this population [PMID 21533915]. Functional assays showed that this change alters the calcium binding properties of the Tn complex [PMID 22675533]. This variant was observed in only one individual at the heterozygous state in the ExAC population database (http://exac.broadinstitute.org/variant/19-55665450-G-A).Serine at position 166 of the TNNI3 protein is conserved in mammals and while not clinically validated, computer-based algorithms (SIFT and Polyphen-2) predict this p.Ser166Phe change to be deleterious. This variant is thus classified as likely pathogenic. (less)
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Likely pathogenic
(May 25, 2020)
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criteria provided, single submitter
Method: clinical testing
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Hypertrophic cardiomyopathy
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
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Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV000203863.6
First in ClinVar: Jan 31, 2015 Last updated: May 29, 2021 |
Comment:
The p.Ser166Phe variant in TNNI3 has been reported at least 10 individuals with HCM and 1 infant with sudden infant death (Van Driest 2003, Mogensen … (more)
The p.Ser166Phe variant in TNNI3 has been reported at least 10 individuals with HCM and 1 infant with sudden infant death (Van Driest 2003, Mogensen 2004, van den Wigngaard 2011, Brion 2012, LMM data). One of these individuals also carried a pathogenic variant in MYBPC3 and had an early age of disease onset (Van Driest 2004). This variant has also been reported by other clinical laboratories in ClinVar (Variation ID: 177630) and has been identified in 0.002% (2/113184) of European chromosomes by gnomAD (http://gnomad.broadinstitute.org/). In vitro functional studies support an impact on protein function (Liu 2012). Additionally, computational prediction tools and conservation analyses are consistent with pathogenicity. In summary, although additional studies are required to fully establish its clinical significance, this variant meets criteria to be classified as likely pathogenic for autosomal dominant HCM. ACMG/AMP Criteria applied:PM2, PS4_Moderate, PP3, PS3_Supporting. (less)
Number of individuals with the variant: 3
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Likely pathogenic
(Sep 09, 2021)
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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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Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV002103282.1
First in ClinVar: Mar 12, 2022 Last updated: Mar 12, 2022 |
Comment:
PM1, PM2_supporting, PS3_supporting, PS4_moderate
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Likely pathogenic
(Jul 20, 2021)
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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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AiLife Diagnostics, AiLife Diagnostics
Accession: SCV002502107.1
First in ClinVar: Apr 23, 2022 Last updated: Apr 23, 2022 |
Number of individuals with the variant: 1
Secondary finding: no
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Likely pathogenic
(Aug 08, 2023)
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criteria provided, single submitter
Method: clinical testing
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Cardiomyopathy
Affected status: unknown
Allele origin:
germline
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Color Diagnostics, LLC DBA Color Health
Accession: SCV004359897.1
First in ClinVar: Feb 14, 2024 Last updated: Feb 14, 2024 |
Comment:
This missense variant replaces serine with phenylalanine at codon 166 in the C-terminal mobile domain of the TNNI3 protein. Computational prediction suggests that this variant … (more)
This missense variant replaces serine with phenylalanine at codon 166 in the C-terminal mobile domain of the TNNI3 protein. Computational prediction suggests that this variant may have a deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). One in-vitro functional study showed that this variant led to an increase in calcium sensitivity as well as a decrease in the rate of calcium dissociation from the troponin complex (PMID: 22675533). This variant has been reported in individuals affected with hypertrophic cardiomyopathy (PMID: 12860912, 12974739, 15519027, 15607392 , 21533915, 21839045, 15519027, 27532257, 30847666, 31737537, 33662488, 35626289). One of these individuals also carried a pathogenic variant in the MYBPC3 gene (PMID: 15519027, 21839045). This variant has also been reported in an individual affected with atrioventricular block (PMID: 35470684), in a case of sudden infant death (PMID: 22361390), and in an individual affected with juvenile ischemic stroke (PMID: 36411388). This variant has been identified in 2/249054 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Based on the available evidence, this variant is classified as Likely Pathogenic. (less)
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Pathogenic
(Jan 08, 2024)
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criteria provided, single submitter
Method: clinical testing
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Hypertrophic cardiomyopathy
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV000749903.7
First in ClinVar: May 28, 2018 Last updated: Feb 20, 2024 |
Comment:
This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 166 of the TNNI3 protein (p.Ser166Phe). … (more)
This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 166 of the TNNI3 protein (p.Ser166Phe). This variant is present in population databases (rs727504242, gnomAD 0.002%). This missense change has been observed in individuals with autosomal dominant hypertrophic cardiomyopathy (PMID: 21533915). ClinVar contains an entry for this variant (Variation ID: 177630). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. Experimental studies have shown that this missense change affects TNNI3 function (PMID: 22675533). For these reasons, this variant has been classified as Pathogenic. (less)
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Likely pathogenic
(Apr 11, 2014)
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no assertion criteria provided
Method: clinical testing
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Not provided
Affected status: not provided
Allele origin:
germline
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Stanford Center for Inherited Cardiovascular Disease, Stanford University
Accession: SCV000280509.1
First in ClinVar: May 29, 2016 Last updated: May 29, 2016 |
Comment:
Note this variant was found in clinical genetic testing performed by one or more labs who may also submit to ClinVar. Thus any internal case … (more)
Note this variant was found in clinical genetic testing performed by one or more labs who may also submit to ClinVar. Thus any internal case data may overlap with the internal case data of other labs. The interpretation reviewed below is that of the Stanford Center for Inherited Cardiovascular Disease. The variant has been seen in at least 9 unrelated published cases of HCM (see details below). The testing lab also states in their report that they have seen this particular variant in multiple unrelated individuals tested for HCM. Unfortunately, there is no segregation data presented in any of these studies. 2 of these 9 patients identified with this p.S166F variant also harbored another variant in a sarcomeric gene (including one novel missense variant in MYH7, and one nonsense variant in MYBPC3). Erdmann J et al. 2003 screened for mutations in 6 sarcomeric genes (MYBPC3, MYH7, TNNT2, TPM1, TNNI3, and TNNC1) in 108 patients with clinical diagnosis of HCM. This particular p.S166F variant was identified in 1 individual with HCM, though notably this individual also carried a novel missense variant in MYH7. p.S166F in TNNI3 was absent from 50 German controls. No segregation data is presented. While the authors note the highly conserved residue 166 and change in charge, they conclude that there is no proof that both missense variants (if any) are disease causing. Van Driest S et al. 2003 identified p.S166F in 3 unrelated patients with HCM. There was no family history or segregation data available. This variant was absent from 200 healthy controls from Coriell (100 African Americans and 100 European Americans). The same group subsequently screened this same cohort for mutations in MYBPC3, and identified an individual with HCM with both p.S166F in TNNI3 as well as a nonsense variant in MYBPC3. Given that this was the same cohort as their 2003 paper, the total unrelated HCM patients with the S166F variant from the Van Driest group appears to be 3, though notably with one occurring in the presence of another (likely pathogenic) variant. Mogensen J et al. 2004 identified p.S166F in 1 proband with HCM in a UK cohort and this proband’s clinically unaffected sister (though no ages or details are provided). Absent from 75 Caucasian controls. No segregation data presented. Additionally, the authors only screened this cohort of HCM patients for mutations in TNNI3.Finally, Van den Wijngaard A et al. 2011 identified this variant in 4 unrelated patients with HCM in the Netherlands, though no segregation data available and weak methodology in that sounds like they only screened TNNI3 in this large cohort of cardiomyopathy patients. In silico analysis with PolyPhen-2 predicts the variant to be possibly damaging, and Mutation Taster considers this variant disease-causing. Ser166Phe results in a non-conservative amino acid substitution of a neutral, polar Serine with a non-polar Phenylalanine. The Serine at codon 166 is completely conserved across species, as are neighboring amino acids. This variant occurs in exon 7 of 8 coding exons. Other variants have been reported in association with disease at nearby codons (Lys164Thr, Leu167Pro). One paper found that the majority of TNNI3 mutations as of 2011 were identified in exons 7 and 8, encoding domains interacting with cardiac actin (ACTC1) and cardiac troponin C (TNNC1).Disease-causing variants in MYBPC3 and MYH7 are most common in HCM, accounting for 20%-45% and 15%-20% of the disease, respectively. Cardiac troponin T type 2 (TNNT2) and troponin I type 3 (TNNI3) each account for ~5%. Variation in other sarcomere genes is less frequent. In total the variant has not been seen in approximately 6,350 published controls and individuals from publicly available population datasets (this includes 350 published controls from the literature, and individuals from publicly available population datasets). There is no variation at codon 166 listed in the NHLBI Exome Sequencing Project dataset, which currently includes variant calls in TNNI3 on approximately 4200 Caucasian and 2000 African American individuals (as of 8/6/13). There is also no variation at this codon listed in dbSNP or 1000 genomes (as of 8/6/13). (less)
Number of individuals with the variant: 10
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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: SCV001741336.3 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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Clinical Genetics, Academic Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001920116.1 First in ClinVar: Sep 26, 2021 Last updated: Sep 26, 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: SCV001957991.1 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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Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001967521.1 First in ClinVar: Oct 07, 2021 Last updated: Oct 07, 2021 |
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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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Exome-based gene panel analysis in a cohort of acute juvenile ischemic stroke patients:relevance of NOTCH3 and GLA variants. | Härtl J | Journal of neurology | 2023 | PMID: 36411388 |
The Genetic Architecture of Hypertrophic Cardiomyopathy in Hungary: Analysis of 242 Patients with a Panel of 98 Genes. | Sepp R | Diagnostics (Basel, Switzerland) | 2022 | PMID: 35626289 |
Diagnostic Yield of Genetic Testing in Young Patients With Atrioventricular Block of Unknown Cause. | Resdal Dyssekilde J | Journal of the American Heart Association | 2022 | PMID: 35470684 |
Diagnostic yield of targeted next generation sequencing in 2002 Dutch cardiomyopathy patients. | Alimohamed MZ | International journal of cardiology | 2021 | PMID: 33662488 |
Variant panorama in 1,385 index patients and sensitivity of expanded next-generation sequencing panels in arrhythmogenic disorders. | Marschall C | Cardiovascular diagnosis and therapy | 2019 | PMID: 31737537 |
Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network. | eMERGE Consortium. Electronic address: agibbs@bcm.edu | American journal of human genetics | 2019 | PMID: 31447099 |
Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance. | van Lint FHM | Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation | 2019 | PMID: 30847666 |
Genotype and Lifetime Burden of Disease in Hypertrophic Cardiomyopathy: Insights from the Sarcomeric Human Cardiomyopathy Registry (SHaRe). | Ho CY | Circulation | 2018 | PMID: 30297972 |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. | Walsh R | Genetics in medicine : official journal of the American College of Medical Genetics | 2017 | PMID: 27532257 |
Evaluation of the Mayo Clinic Phenotype-Based Genotype Predictor Score in Patients with Clinically Diagnosed Hypertrophic Cardiomyopathy. | Murphy SL | Journal of cardiovascular translational research | 2016 | PMID: 26914223 |
A Systematic Review of Phenotypic Features Associated With Cardiac Troponin I Mutations in Hereditary Cardiomyopathies. | Mogensen J | The Canadian journal of cardiology | 2015 | PMID: 26440512 |
Distinguishing hypertrophic cardiomyopathy-associated mutations from background genetic noise. | Kapplinger JD | Journal of cardiovascular translational research | 2014 | PMID: 24510615 |
Disease-related cardiac troponins alter thin filament Ca2+ association and dissociation rates. | Liu B | PloS one | 2012 | PMID: 22675533 |
Sarcomeric gene mutations in sudden infant death syndrome (SIDS). | Brion M | Forensic science international | 2012 | PMID: 22361390 |
Double or compound sarcomere mutations in hypertrophic cardiomyopathy: a potential link to sudden death in the absence of conventional risk factors. | Maron BJ | Heart rhythm | 2012 | PMID: 21839045 |
Recurrent and founder mutations in the Netherlands: cardiac Troponin I (TNNI3) gene mutations as a cause of severe forms of hypertrophic and restrictive cardiomyopathy. | van den Wijngaard A | Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation | 2011 | PMID: 21533915 |
Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy. | Mogensen J | Journal of the American College of Cardiology | 2004 | PMID: 15607392 |
Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy. | Van Driest SL | Journal of the American College of Cardiology | 2004 | PMID: 15519027 |
Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy. | Erdmann J | Clinical genetics | 2003 | PMID: 12974739 |
Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy. | Van Driest SL | Circulation | 2003 | PMID: 12860912 |
Additional PKA phosphorylation sites in human cardiac troponin I. | Ward DG | European journal of biochemistry | 2001 | PMID: 11121119 |
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Text-mined citations for rs727504242 ...
HelpRecord last updated Feb 28, 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.