ClinVar Miner

Submissions for variant NM_000364.4(TNNT2):c.517G>A (p.Glu173Lys) (rs1558225569)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000687856 SCV000815445 likely pathogenic Familial hypertrophic cardiomyopathy 2; Left ventricular noncompaction 6; Familial restrictive cardiomyopathy 3 2018-12-31 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 163 of the TNNT2 protein (p.Glu163Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in several individuals affected with hypertrophic cardiomyopathy (PMID: 7898523, 27532257, 22112859, 22144547). Experimental studies have shown that this missense change alters calcium sensitivity and decreases interaction between cardiac troponin T and tropomyosin (PMID: 10617660, 24480310, 22579624, 14722098, 24367593). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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