ClinVar Miner

Submissions for variant NC_000007.14:g.(?_16406061)_(16406337_?)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 RCV000529419 SCV000652572 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; Autosomal recessive limb-girdle muscular dystrophy type 2U 2016-12-05 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon 2 of the ISPD gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, truncating variants in ISPD are known to be pathogenic (PMID: 22522421). For these reasons, this variant has been classified as Pathogenic.

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