ClinVar Miner

Submissions for variant NC_000007.13:g.(?_16445666)_(16445982_?)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 RCV001385267 SCV001585043 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; Autosomal recessive limb-girdle muscular dystrophy type 2U 2020-02-15 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ISPD are known to be pathogenic (PMID: 23288328). This variant has not been reported in the literature in individuals with ISPD-related conditions. This variant is an out-of-frame deletion of the genomic region encompassing exon 2 of the ISPD gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product.

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