ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.1818del (p.Trp607fs)

dbSNP: rs2055505065
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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 RCV001205837 SCV001377114 pathogenic Progressive sclerosing poliodystrophy 2023-12-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp607Glyfs*62) 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: 936926). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001205837 SCV005052389 likely pathogenic Progressive sclerosing poliodystrophy 2023-11-22 criteria provided, single submitter clinical testing

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