ClinVar Miner

Submissions for variant NM_018418.5(SPATA7):c.1171C>T (p.Arg391Ter) (rs374268850)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000578631 SCV000681383 pathogenic not provided 2018-02-05 criteria provided, single submitter clinical testing The R391X variant in the SPATA7 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 through protein truncation, as the last 209 amino acids are lost. The R391X variant is not observed in large population cohorts (Lek et al., 2016). We interpret R391X as a pathogenic variant.
Human Genetics - Radboudumc,Radboudumc RCV000678631 SCV000804719 pathogenic Leber congenital amaurosis 3 2016-09-01 no assertion criteria provided clinical testing

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