ClinVar Miner

Submissions for variant NM_003919.3(SGCE):c.448_452del (p.Ile150fs)

dbSNP: rs2116918021
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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 RCV001993234 SCV002236896 pathogenic Myoclonic dystonia 11 2024-05-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile150Valfs*16) 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). This premature translational stop signal has been observed in individual(s) with dystonia (Invitae). ClinVar contains an entry for this variant (Variation ID: 1451375). For these reasons, this variant has been classified as Pathogenic.

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