ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.156G>C (p.Gln52His)

dbSNP: rs587781117
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001589368 SCV001814855 uncertain significance not provided 2020-04-02 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function
Labcorp Genetics (formerly Invitae), Labcorp RCV001866118 SCV002175041 uncertain significance Progressive sclerosing poliodystrophy 2022-05-24 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 52 of the POLG protein (p.Gln52His). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with POLG-related conditions. ClinVar contains an entry for this variant (Variation ID: 1212130). 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: "Benign"; 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.
Ambry Genetics RCV002405259 SCV002704064 uncertain significance Inborn genetic diseases 2018-05-21 criteria provided, single submitter clinical testing The p.Q52H variant (also known as c.156G>C), located in coding exon 1 of the POLG gene, results from a G to C substitution at nucleotide position 156. The glutamine at codon 52 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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