ClinVar Miner

Submissions for variant NC_000017.10:g.(?_48243138)_48245027del

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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 RCV001380701 SCV001578831 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D 2020-09-16 criteria provided, single submitter clinical testing This variant results in the deletion of exons 1-2 and part of exon 3 (c.-261_245del) of the SGCA gene. This is expected to result in an absent or disrupted protein product. This variant has been observed in individual(s) with clinical features of muscular dystrophy (Invitae). Loss-of-function variants in SGCA are known to be pathogenic (PMID: 9192266). For these reasons, this variant has been classified as Pathogenic.

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