ClinVar Miner

Submissions for variant NM_004614.5(TK2):c.514A>G (p.Met172Val)

dbSNP: rs1057520686
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000444886 SCV000516978 likely benign not specified 2015-05-06 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001865330 SCV002289277 uncertain significance not provided 2021-01-12 criteria provided, single submitter clinical testing This sequence change replaces methionine with valine at codon 172 of the TK2 protein (p.Met172Val). The methionine residue is weakly conserved and there is a small physicochemical difference between methionine and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TK2-related conditions. ClinVar contains an entry for this variant (Variation ID: 379673). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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