ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.390del (p.Ile131fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002790550 SCV003034896 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 2022-04-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile131Serfs*13) in the POMGNT1 gene. It is expected to 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with POMGNT1-related conditions. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003464601 SCV004205990 likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 2023-04-05 criteria provided, single submitter clinical testing

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