ClinVar Miner

Submissions for variant NM_152281.3(GORAB):c.784C>T (p.Arg262Ter)

gnomAD frequency: 0.00001  dbSNP: rs119455952
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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 RCV001851589 SCV002270538 likely pathogenic not provided 2025-01-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg287*) in the GORAB gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 108 amino acid(s) of the GORAB protein. This variant is present in population databases (rs119455952, gnomAD 0.003%). This premature translational stop signal has been observed in individuals with geroderma osteodysplastica (PMID: 18997784, 31829210). This variant is also known as c.784C>T (p.Arg262X). This gene is also known as SCYL1BP1. ClinVar contains an entry for this variant (Variation ID: 2652). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
OMIM RCV000002771 SCV000022929 pathogenic Geroderma osteodysplastica 2008-12-01 no assertion criteria provided literature only

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