ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.1154C>T (p.Thr385Met)

gnomAD frequency: 0.00009  dbSNP: rs201379753
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000884725 SCV001028124 likely benign Leber congenital amaurosis 2; Retinitis pigmentosa 20 2024-01-08 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001098673 SCV001255056 uncertain significance Leber congenital amaurosis 2 2017-11-20 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001098674 SCV001255057 uncertain significance Retinitis pigmentosa 2017-11-20 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Dept Of Ophthalmology, Nagoya University RCV003890011 SCV004705399 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research
PreventionGenetics, part of Exact Sciences RCV004530925 SCV004752538 likely benign RPE65-related disorder 2023-08-22 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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