ClinVar Miner

Submissions for variant NC_000007.14:g.(?_16308513)_(16376251_?)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 RCV000821278 SCV000962032 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; Autosomal recessive limb-girdle muscular dystrophy type 2U 2022-08-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. The region of the ISPD gene that includes exon(s) 3 has been determined to be clinically significant (PMID: 22522420). Therefore, deletions that encompass that region 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) 3-4 of the ISPD gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame.

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