ClinVar Miner

Submissions for variant NC_000005.9:g.(?_156184572)_(156184735_?)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 RCV003111054 SCV003792177 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2F 2022-05-26 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 8 of the SGCD gene. While this deletion is not anticipated to lead to nonsense mediated decay, it is expected to disrupt the C-terminus of the protein. This variant has not been reported in the literature in individuals affected with SGCD-related conditions. This variant disrupts a region of the SGCD protein in which other variant(s) (p.Thr220Profs*6) have been determined to be pathogenic (PMID: 8841194). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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