ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.2713G>A (p.Ala905Thr)

gnomAD frequency: 0.00001  dbSNP: rs747156457
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001890105 SCV002142927 uncertain significance Progressive sclerosing poliodystrophy 2022-08-10 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 905 of the POLG protein (p.Ala905Thr). This variant is not present in population databases (gnomAD no frequency). 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: 1378202). 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: "Probably 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.
Ambry Genetics RCV004651771 SCV005149546 uncertain significance Inborn genetic diseases 2024-06-06 criteria provided, single submitter clinical testing The c.2713G>A (p.A905T) alteration is located in exon 17 (coding exon 16) of the POLG gene. This alteration results from a G to A substitution at nucleotide position 2713, causing the alanine (A) at amino acid position 905 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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