ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.1210C>T (p.Gln404Ter) (rs1554778005)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000627277 SCV000748269 likely pathogenic not provided 2018-03-13 criteria provided, single submitter clinical testing The Q426X variant in the POMT1 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 Q426X variant is not observed in large population cohorts (Lek et al., 2016). We interpret Q426X as a likely pathogenic variant.

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