ClinVar Miner

Submissions for variant NM_000364.4(TNNT2):c.770T>C (p.Leu257Pro) (rs376037051)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000463843 SCV000541925 uncertain significance Familial hypertrophic cardiomyopathy 2; Left ventricular noncompaction 6; Familial restrictive cardiomyopathy 3 2017-06-20 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 250 of the TNNT2 protein (p.Leu250Pro). The leucine residue is moderately conserved and there is a moderate physicochemical difference between leucine and proline. This variant is present in population databases (rs376037051, ExAC 0.001%). This variant has not been reported in the literature in individuals with a TNNT2-related disease. ClinVar contains an entry for this variant (Variation ID:404398). A computational algorithm designed to assess the pathogenicity of variants in TNNT2 with regard to hypertrophic cardiomyopathy predicted this sequence change to be tolerated. The algorithm has a sensitivity of 94% and a specificity of 89% (PMID: 21310275). In summary, this variant has uncertain impact on TNNT2 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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