ClinVar Miner

Submissions for variant NM_004287.5(GOSR2):c.262del (p.Gln88fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001065400 SCV001230356 pathogenic Progressive myoclonic epilepsy 2019-04-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln88Serfs*55) in the GOSR2 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs776869841, ExAC 0.009%). This variant has not been reported in the literature in individuals with GOSR2-related conditions. Loss-of-function variants in GOSR2 are known to be pathogenic (PMID: 21549339). For these reasons, this variant has been classified as Pathogenic.

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