ClinVar Miner

Submissions for variant NC_000001.10:g.(?_46655193)_(46661449_?)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 RCV003119787 SCV003795045 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 2022-08-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the POMGNT1 protein in which other variant(s) (p.Cys490Tyr) have been determined to be pathogenic (PMID: 15466003, 17030669, 17559086, 17878207, 21361872, 22323514, 24282183). 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 POMGNT1-related conditions. This variant results in the deletion of exons 7-20 and part of exon 21 (c.534+34_1832del) of the POMGNT1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in POMGNT1 are known to be pathogenic (PMID: 19299310, 20816175, 21447391, 26908613, 27391550).

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