ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.2924A>G (p.Gln975Arg)

gnomAD frequency: 0.00002  dbSNP: rs972611793
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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 RCV000796667 SCV000936189 uncertain significance Progressive sclerosing poliodystrophy 2024-04-01 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 975 of the POLG protein (p.Gln975Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of autosomal dominant progressive external ophthalmoplegia (Invitae). ClinVar contains an entry for this variant (Variation ID: 643054). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt POLG protein function with a negative predictive value of 95%. 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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