ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.1087C>A (p.Pro363Thr) (rs121917744)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000815732 SCV000956201 pathogenic Leber congenital amaurosis 2; Retinitis pigmentosa 20 2019-01-03 criteria provided, single submitter clinical testing This sequence change replaces proline with threonine at codon 363 of the RPE65 protein (p.Pro363Thr). The proline residue is highly conserved and there is a small physicochemical difference between proline and threonine. This variant is present in population databases (rs121917744, ExAC 0.01%). This variant has been observed to segregate with Leber congenital amaurosis and retinal dystrophy in several families (PMID: \9326941, 15024725, 29332120). ClinVar contains an entry for this variant (Variation ID: 13117). This variant has been reported to affect RPE65 protein function (PMID: 16828753). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000013996 SCV000034243 pathogenic Retinitis pigmentosa 20 1997-10-01 no assertion criteria provided literature only
Laboratory of Genetics in Ophthalmology,Institut Imagine RCV001250693 SCV001425566 pathogenic Leber congenital amaurosis 2 no assertion criteria provided research

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