ClinVar Miner

Submissions for variant NC_000017.10:g.(?_48243138)_(48245027_?)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 RCV001941832 SCV002235116 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2021-04-21 criteria provided, single submitter clinical testing This variant results in the deletion of exon(s) 1-2 and part of exon 3 (c.-261_245del) of the SGCA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SGCA are known to be pathogenic (PMID: 9192266). For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with clinical features of muscular dystrophy (Invitae).

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