ClinVar Miner

Submissions for variant NC_000005.10:g.(?_156329567)_(156344687_?)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 RCV001032034 SCV001195341 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2F 2019-07-16 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 2 to 3 of the SGCD 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 3 of the SGCD gene. This is expected to result in an absent or disrupted protein product. This variant has been reported in at least one individual affected with muscular dystrophy and progressive muscle weakness (PMID: 26077850, 26633542) 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).

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