ClinVar Miner

Submissions for variant NC_000005.9:g.(?_155935601)_(156074556_?)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 RCV001380706 SCV001578846 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2F 2020-05-08 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exon(s) e4-e7 of the SGCD gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in SGCD are known to be pathogenic (PMID: 8841194, 10735275, 10838250). This variant has not been reported in the literature in individuals with SGCD-related conditions.

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