ClinVar Miner

Submissions for variant NM_004744.5(LRAT):c.473G>A (p.Trp158Ter)

dbSNP: rs878853351
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760505 SCV000890396 pathogenic not provided 2019-01-25 criteria provided, single submitter clinical testing The W158X variant in the LRAT gene has been reported previously in the homozygous state in an individual with retinal disease (Ellingford et al., 2016). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The W158X variant is not observed in large population cohorts (Lek et al., 2016). We interpret W158X as a pathogenic variant.
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals RCV000225673 SCV000282557 likely pathogenic Retinal dystrophy no assertion criteria provided clinical testing

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