ClinVar Miner

Submissions for variant NC_000004.12:g.(?_52038207)_(52038279_?)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 RCV000531053 SCV000642374 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 2017-02-11 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon 1 of the SGCB gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 1 of the SGCB gene. This is expected to result in an absent or disrupted protein product. While this particular deletion has not been reported in the literature, loss-of-function variants in SGCB are known to be pathogenic (PMID: 18285821). For these reasons, this variant has been classified as Pathogenic.

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