ClinVar Miner

Submissions for variant NC_000001.10:g.(?_235612376)_(235616407_?)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 RCV004584100 SCV005066494 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 2023-06-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the B3GALNT2 protein in which other variant(s) (p.Pro474del) have been determined to be pathogenic (Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with B3GALNT2-related conditions. This variant results in the deletion of exon 12 and part of exon 11 (c.1363_*1145delinsCAAA) of the B3GALNT2 gene. While this deletion is not anticipated to lead to nonsense mediated decay, it is expected to alter mRNA translation or result in a truncated protein product.

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