ClinVar Miner

Submissions for variant NM_003919.3(SGCE):c.559del (p.Ala186_Val187insTer)

dbSNP: rs1554352906
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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 RCV000639692 SCV000761273 pathogenic Myoclonic dystonia 11 2017-11-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val187*) in the SGCE gene. It is expected to result in an absent or disrupted protein product. 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 disease. Loss-of-function variants in SGCE are known to be pathogenic (PMID: 12821748, 15389977, 24297365). For these reasons, this variant has been classified as Pathogenic.

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