ClinVar Miner

Submissions for variant NC_000004.12:g.(?_52033421)_(52033650_?)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 RCV001032671 SCV001195978 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E 2019-02-18 criteria provided, single submitter clinical testing This variant is an in-frame deletion of the genomic region encompassing exon 2 of the SGCB gene. It preserves the integrity of the reading frame. This variant has been observed in several individuals affected with autosomal recessive limb-girdle muscular dystrophy and to segregate with disease in a family (PMID: 28687063, 28883879). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. For these reasons, this variant has been classified as Pathogenic.

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