ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.493C>T (p.Gln165Ter)

gnomAD frequency: 0.00001  dbSNP: rs1202384396
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001953858 SCV002238957 pathogenic Leber congenital amaurosis 2; Retinitis pigmentosa 20 2022-08-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1457635). This premature translational stop signal has been observed in individuals with inherited retinal dystrophy (PMID: 26047050, 30996589). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (no rsID available, gnomAD 0.06%). This sequence change creates a premature translational stop signal (p.Gln165*) in the RPE65 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RPE65 are known to be pathogenic (PMID: 9326941, 9501220, 9843205, 18632300).
Baylor Genetics RCV003471184 SCV004209271 pathogenic Leber congenital amaurosis 2 2023-05-03 criteria provided, single submitter clinical testing

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