ClinVar Miner

Submissions for variant NM_152305.3(POGLUT1):c.552G>A (p.Trp184Ter)

dbSNP: rs1560034617
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760636 SCV000890528 likely pathogenic not provided 2018-07-05 criteria provided, single submitter clinical testing The W184X nonsense variant in the POGLUT1 gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The W184X variant is not observed in large population cohorts (Lek et al., 2016). Although the W184X variant has not been reported previously to our knowledge, we interpret it to be a likely pathogenic variant.
Revvity Omics, Revvity RCV000760636 SCV002019458 pathogenic not provided 2020-03-18 criteria provided, single submitter clinical testing
OMIM RCV002290007 SCV002577643 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2R1 2022-10-04 no assertion criteria provided literature only

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