ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.718G>T (p.Val240Phe) (rs192907397)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cytogenetics and Genomics Laboratory,Medical University of South Carolina RCV000754973 SCV000803383 likely pathogenic Leber congenital amaurosis 2018-06-01 criteria provided, single submitter research
Invitae RCV001244442 SCV001417662 uncertain significance Leber congenital amaurosis 2; Retinitis pigmentosa 20 2019-10-04 criteria provided, single submitter clinical testing This sequence change replaces valine with phenylalanine at codon 240 of the RPE65 protein (p.Val240Phe). The valine residue is highly conserved and there is a small physicochemical difference between valine and phenylalanine. This variant is present in population databases (rs192907397, ExAC 0.01%). This variant has been observed to segregate with early-onset retinal dystrophy in a family (PMID: 30870047). ClinVar contains an entry for this variant (Variation ID: 559520). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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