ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.893del (p.Lys298fs) (rs61752902)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000414568 SCV000490776 pathogenic not provided 2018-09-21 criteria provided, single submitter clinical testing The c.893delA variant in the RPE65 gene has been reported previously in association with Leber Congenital Amaurosis (LCA) (Zernant et al., 2005; Stone et al., 2007; Lotery et al., 2000; Simovich et al., 2001; Wang et al., 2014). The deletion causes a frameshift starting with codon Lysine 298, changes this amino acid to a Serine residue and creates a premature Stop codon at position 27 of the new reading frame, denoted p.Lys298SerfsX27. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, we interpret c.893delA as pathogenic.
Retina International RCV000414568 SCV000117365 not provided not provided no assertion provided not provided

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