ClinVar Miner

Submissions for variant NM_000364.4(TNNT2):c.481C>T (p.Arg161Cys) (rs45608937)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000646061 SCV000767818 uncertain significance Familial hypertrophic cardiomyopathy 2; Left ventricular noncompaction 6; Familial restrictive cardiomyopathy 3 2018-04-26 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 151 of the TNNT2 protein (p.Arg151Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with hypertrophic cardiomyopathy (PMID: 27532257) and it has been reported in the homozygous state in an individual affected with dilated cardiomyopathy, however, an unaffected sibling was also homozygous for this variant, and the heterozygous parents were unaffected (PMID: 20031601). An algorithm developed specifically for the TNNT2 gene suggests that this missense change is likely to be deleterious (PMID: 21310275). However, this prediction has not been confirmed by published functional studies and its clinical significance is uncertain. 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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