ClinVar Miner

Submissions for variant NC_000001.11:g.(?_46190463)_(46190794_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000798153 SCV000937754 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 2022-06-08 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 18-19 of the POMGNT1 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in POMGNT1 are known to be pathogenic (PMID: 19299310, 20816175, 21447391, 26908613, 27391550). A similar copy number variant has been observed in individual(s) with congenital muscular dystrophy or muscle-eye-brain disease (PMID: 25987458, 28765568). For these reasons, this variant has been classified as Pathogenic.

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