ClinVar Miner

Submissions for variant NM_001386125.1(OBSCN):c.17566dup (p.Met5856fs)

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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 RCV005086591 SCV005721565 pathogenic not provided 2024-05-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Met4899Asnfs*67) in the OBSCN gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in OBSCN are known to be pathogenic (PMID: 34957489). This variant is present in population databases (rs762813440, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with OBSCN-related conditions. For these reasons, this variant has been classified as Pathogenic.

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