ClinVar Miner

Submissions for variant NM_020806.5(GPHN):c.630dup (p.Gln211fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002867008 SCV003235190 pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C 2022-09-30 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with GPHN-related conditions. This sequence change creates a premature translational stop signal (p.Gln211Serfs*3) in the GPHN gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GPHN are known to be pathogenic (PMID: 11095995, 23184456, 23393157). This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic.

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