ClinVar Miner

Submissions for variant NC_000005.10:g.(?_156757561)_(156759410_?)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 RCV000708439 SCV000837549 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2F 2018-04-05 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 8-9 of the SGCD gene. The 5' boundary is likely confined to intron 7. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product or disrupt mRNA translation. This variant has not been reported in the literature in individuals with SGCD-related disease. Loss-of-function variants in SGCD are known to be pathogenic (PMID: 8841194, 10735275, 10838250). A different truncation (p.Thr220Profs*6) that is located within exon 8 has been determined to be likely pathogenic (PMID: 8841194). This suggests that deletion of this region of the SGCD protein is causative of disease. For these reasons, this variant has been classified as Pathogenic.

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