ClinVar Miner

Submissions for variant NM_000364.4(TNNT2):c.874G>A (p.Gly292Arg) (rs147940106)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000556705 SCV000646920 uncertain significance Familial hypertrophic cardiomyopathy 2; Left ventricular noncompaction 6; Familial restrictive cardiomyopathy 3 2017-06-05 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 285 of the TNNT2 protein (p.Gly285Arg). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs147940106, ExAC 0.03%). 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: 180555). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Blueprint Genetics RCV000788740 SCV000927964 uncertain significance not provided 2018-09-28 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000157541 SCV000207287 uncertain significance Primary familial hypertrophic cardiomyopathy 2014-10-07 no assertion criteria provided clinical testing

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