ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.1474C>T (p.Arg492Ter) (rs119462985)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000760355 SCV000226310 pathogenic not provided 2014-03-20 criteria provided, single submitter clinical testing
GeneDx RCV000760355 SCV000890215 pathogenic not provided 2018-08-21 criteria provided, single submitter clinical testing The R514X nonsense variant in the POMT1 gene has been reported previously in the homozygous state in an individual with a clinical diagnosis of Walker-Warburg syndrome (Yis et al., 2007). The R514X variant has also been reported along with a second POMT1 variant in unrelated individuals with congenital muscular dystrophy, microcephaly, and intellectual disability with variable additional findings (D'Amico et al., 2006; van Reeuwijk et al., 2006). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R514X variant is not observed in large population cohorts (Lek et al., 2016). We interpret R514X as a pathogenic variant.
OMIM RCV000003401 SCV000023559 pathogenic MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1 2006-05-01 no assertion criteria provided literature only

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