ClinVar Miner

Submissions for variant NC_000007.14:g.(?_16301411)_(16308637_?)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 RCV000813346 SCV000953704 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; Autosomal recessive limb-girdle muscular dystrophy type 2U 2018-12-31 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exons 4-5 of the ISPD gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with ISPD-related disease. Loss-of-function variants in ISPD are known to be pathogenic (PMID: 22522421). For these reasons, this variant has been classified as Pathogenic.

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