ClinVar Miner

Submissions for variant NM_001276345.2(TNNT2):c.752A>G (p.Tyr251Cys) (rs200500421)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172137 SCV000051075 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Color RCV001191382 SCV001359195 uncertain significance Cardiomyopathy 2019-10-17 criteria provided, single submitter clinical testing
Invitae RCV001202883 SCV001374017 uncertain significance Familial hypertrophic cardiomyopathy 2; Left ventricular noncompaction 6; Familial restrictive cardiomyopathy 3 2019-10-21 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with cysteine at codon 241 of the TNNT2 protein (p.Tyr241Cys). The tyrosine residue is weakly conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with hypertrophic cardiomyopathy (PMID: 20800588). ClinVar contains an entry for this variant (Variation ID: 191800). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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