ClinVar Miner

Submissions for variant NM_004287.5(GOSR2):c.241C>T (p.Gln81Ter)

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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 RCV005156157 SCV005789099 pathogenic Progressive myoclonic epilepsy 2024-06-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln81*) in the GOSR2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GOSR2 are known to be pathogenic (PMID: 21549339). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with GOSR2-related conditions. For these reasons, this variant has been classified as Pathogenic.

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