ClinVar Miner

Submissions for variant NC_000007.13:g.(?_94248050)_(94248288_?)del

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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 RCV001975138 SCV002241063 pathogenic Myoclonic dystonia 11 2023-09-27 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 5 of the SGCE gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in SGCE are known to be pathogenic (PMID: 12821748, 15389977, 17853490, 24297365). A similar copy number variant has been observed in individuals with myoclonus-dystonia (PMID: 16240355, 19133653). It has also been observed to segregate with disease in related individuals. For these reasons, this variant has been classified as Pathogenic.

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