ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.922C>T (p.Gln308Ter)

dbSNP: rs1555453824
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000579146 SCV000681390 likely pathogenic not provided 2018-02-01 criteria provided, single submitter clinical testing The Q308X variant in the POLG gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q308X variant is not observed in large population cohorts (Lek et al., 2016). We interpret Q308X as a likely pathogenic variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV002529053 SCV003271168 pathogenic Progressive sclerosing poliodystrophy 2024-01-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln308*) in the POLG gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in POLG are known to be pathogenic (PMID: 18546365). 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: 489385). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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