ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.991C>T (p.Gln331Ter)

dbSNP: rs1557673817
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760851 SCV000890747 pathogenic not provided 2018-12-04 criteria provided, single submitter clinical testing The Q331X variant in the POMGNT1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q331X variant is not observed in large population cohorts (Lek et al., 2016). We interpret Q331X as a pathogenic variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV002533851 SCV002940153 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 2023-09-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 620470). This variant has not been reported in the literature in individuals affected with POMGNT1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln331*) 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).
Baylor Genetics RCV003465680 SCV004205993 likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 2023-03-23 criteria provided, single submitter clinical testing

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