ClinVar Miner

Submissions for variant NC_000007.13:g.(?_16297995)_(16348272_?)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 RCV004583566 SCV005065950 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; Autosomal recessive limb-girdle muscular dystrophy type 2U 2023-03-24 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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. This variant has not been reported in the literature in individuals affected with ISPD-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 4-8 of the ISPD gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame.

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