ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.907A>T (p.Lys303Ter) (rs61752904)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000085231 SCV000329700 pathogenic not provided 2016-01-22 criteria provided, single submitter clinical testing The K303X variant in the RPE65 gene has been reported previously in the compound heterozygous state, opposite of a second RPE65 variant, in individuals affected with an RPE65-related disorder (Al-Khayer et al., 2004; Jacobson et al., 2005; Stone, et al., 2007). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The K303X variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Therefore, we interpret K303X as a pathogenic variant.
OMIM RCV000022753 SCV000044042 pathogenic Leber congenital amaurosis 2 2004-02-01 no assertion criteria provided literature only
Retina International RCV000085231 SCV000117368 not provided not provided no assertion provided not provided

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