ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.2T>C (p.Met1Thr)

gnomAD frequency: 0.00001  dbSNP: rs281865285
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001376504 SCV001573677 likely pathogenic Retinitis pigmentosa 20 2021-04-08 criteria provided, single submitter research The RPE65 c.2T>C variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PVS1, PM2. Based on this evidence we have classified this variant as Likely Pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV001377675 SCV001575066 pathogenic Leber congenital amaurosis 2; Retinitis pigmentosa 20 2023-07-31 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the RPE65 protein in which other variant(s) (p.Pro25Leu) have been determined to be pathogenic (PMID: 18599565, 25972377, 28041643, 30268864). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 98861). Disruption of the initiator codon has been observed in individual(s) with autosomal recessive Leber congenital amaurosis (PMID: 9501220). This variant is not present in population databases (gnomAD no frequency). This sequence change affects the initiator methionine of the RPE65 mRNA. The next in-frame methionine is located at codon 93.
Retina International RCV000085190 SCV000117327 not provided not provided no assertion provided not provided

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