ClinVar Miner

Submissions for variant NM_000364.4(TNNT2):c.608G>A (p.Arg203Gln) (rs371047521)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000646059 SCV000767816 uncertain significance Familial hypertrophic cardiomyopathy 2; Left ventricular noncompaction 6; Familial restrictive cardiomyopathy 3 2017-10-25 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 196 of the TNNT2 protein (p.Arg196Gln). The arginine residue is weakly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs371047521, ExAC 0.009%). This variant has not been reported in the literature in individuals with TNNT2-related disease. 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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