ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.1060A>G (p.Asn354Asp)

dbSNP: rs796052916
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188692 SCV000242316 likely pathogenic not provided 2019-01-17 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 29655203)
Labcorp Genetics (formerly Invitae), Labcorp RCV002514038 SCV003472613 uncertain significance Progressive sclerosing poliodystrophy 2022-05-21 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: "Probably Damaging"; Align-GVGD: "Class C15"). ClinVar contains an entry for this variant (Variation ID: 206626). This missense change has been observed in individual(s) with clinical features of POLG-related conditions (PMID: 29655203). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 354 of the POLG protein (p.Asn354Asp).

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