ClinVar Miner

Submissions for variant NM_001276345.2(TNNT2):c.236C>T (p.Ser79Leu)

dbSNP: rs761953142
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000996106 SCV001150582 uncertain significance not provided 2019-06-01 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001184583 SCV001350605 likely benign Cardiomyopathy 2018-11-13 criteria provided, single submitter clinical testing
Invitae RCV003769352 SCV004571839 uncertain significance Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3 2023-11-06 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 69 of the TNNT2 protein (p.Ser69Leu). This variant is present in population databases (rs761953142, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with TNNT2-related conditions. ClinVar contains an entry for this variant (Variation ID: 807899). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The leucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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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