ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.715T>G (p.Tyr239Asp) (rs61752896)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001207227 SCV001378571 pathogenic Leber congenital amaurosis 2; Retinitis pigmentosa 20 2019-09-27 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with aspartic acid at codon 239 of the RPE65 protein (p.Tyr239Asp). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with retinitis pigmentosa or Leber congenital amaurosis (PMID: 22334370, 20801516, 26626312). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 98889). This variant has been reported to affect RPE65 protein function (PMID: 24849605, 26427455, 19431183). For these reasons, this variant has been classified as Pathogenic.
Retina International RCV000085220 SCV000117357 not provided not provided no assertion provided not provided
Human Genetics - Radboudumc,Radboudumc RCV000678618 SCV000804706 pathogenic Leber congenital amaurosis 2 2016-09-01 no assertion criteria provided clinical testing

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