ClinVar Miner

Submissions for variant NM_000231.3(SGCG):c.241_297+1169del

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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 RCV000822933 SCV000963759 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C 2019-03-09 criteria provided, single submitter clinical testing This variant is a deletion of the genomic region encompassing part of exon 3 (c.237_297+1165del ) of the SGCG gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has been observed in individual(s) with clinical features of SGCG-related conditions (Invitae). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. Loss-of-function variants in SGCG are known to be pathogenic (PMID: 18285821). For these reasons, this variant has been classified as Pathogenic.

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