ClinVar Miner

Submissions for variant NC_000007.14:g.(?_16216056)_(16216207_?)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 RCV000820604 SCV000961321 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; Autosomal recessive limb-girdle muscular dystrophy type 2U 2019-07-02 criteria provided, single submitter clinical testing This variant is an in-frame deletion of the genomic region encompassing exon 9 of the ISPD gene. It preserves the integrity of the reading frame. This variant has not been reported in the literature in individuals with ISPD-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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