ClinVar Miner

Submissions for variant NC_000007.13:g.(?_16255671)_(16317871_?)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 RCV004583567 SCV005065951 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; Autosomal recessive limb-girdle muscular dystrophy type 2U 2023-11-16 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 6-9 of the ISPD gene. While this deletion is not anticipated to lead to nonsense mediated decay, it is expected to disrupt the C-terminus of the protein. A similar copy number variant has been observed in individual(s) with clinical features of muscular dystrophy-dystroglycanopathy (PMID: 31909476, 34485198). This variant disrupts a region of the ISPD protein in which other variant(s) (p.Val372del) have been determined to be pathogenic (PMID: 23288328, 23390185, 27234031, 31127727). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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