ClinVar Miner

Submissions for variant NM_003919.3(SGCE):c.580del (p.Glu194fs)

dbSNP: rs2116881481
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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 RCV001965458 SCV002219554 pathogenic Myoclonic dystonia 11 2020-11-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu194Serfs*3) in the SGCE gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SGCE are known to be pathogenic (PMID: 12821748, 15389977, 17853490, 24297365). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SGCE-related conditions. For these reasons, this variant has been classified as Pathogenic.

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