ClinVar Miner

Submissions for variant NM_003919.3(SGCE):c.321del (p.Pro108fs)

dbSNP: rs2116959244
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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 RCV002049207 SCV002111619 pathogenic Myoclonic dystonia 11 2022-07-12 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SGCE-related conditions. This sequence change creates a premature translational stop signal (p.Pro108Hisfs*24) 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 (gnomAD no frequency). ClinVar contains an entry for this variant (Variation ID: 1351337). For these reasons, this variant has been classified as Pathogenic.

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