ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.3605A>C (p.Asn1202Thr)

dbSNP: rs2152056239
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001363537 SCV001559653 uncertain significance Progressive sclerosing poliodystrophy 2020-07-07 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with POLG-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces asparagine with threonine at codon 1202 of the POLG protein (p.Asn1202Thr). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and threonine.

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