ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.247T>C (p.Phe83Leu)

dbSNP: rs2100828545
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001942144 SCV002236252 pathogenic Leber congenital amaurosis 2; Retinitis pigmentosa 20 2022-05-31 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1454979). This missense change has been observed in individuals with autosomal recessive RPE65-related conditions and/or Leber congenital amaurosis (PMID: 31878136; Invitae). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 83 of the RPE65 protein (p.Phe83Leu).

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