ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.978G>T (p.Val326=)

gnomAD frequency: 0.00186  dbSNP: rs61752907
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Leber Congenital Amaurosis/early Onset Retinal Dystrophy Variant Curation Expert Panel, ClinGen RCV004527322 SCV005038786 likely benign RPE65-related recessive retinopathy 2024-04-22 reviewed by expert panel curation The variant NM_000329.3(RPE65):c.978G>T, p.Val326= is a synonymous (silent) variant in exon 9. This variant is present in gnomAD v.4.0.0 at a GrpMax allele frequency of 0.004399, with 376 alleles/74964 total alleles in the African/African American population, which is greater than the ClinGen LCA/eoRD VCEP BS1 threshold of >0.0008 (BS1). The splicing impact predictor SpliceAI gives a delta score of 0.02, which is below the ClinGen LCA/eoRD VCEP recommended threshold of <0.1 and does not predict an impact on splicing (BP4, BP7). In summary, this variant meets the criteria to be classified as likely benign for RPE65-related recessive retinopathy based on the ACMG/AMP criteria applied, as specified by the ClinGen LCA/eoRD VCEP: BS1, BP4, BP7. (VCEP specifications version 1.0.0; date of approval 09/21/2023).
Eurofins Ntd Llc (ga) RCV000261103 SCV000343539 likely benign not specified 2016-08-23 criteria provided, single submitter clinical testing
Counsyl RCV000671895 SCV000796928 likely benign Leber congenital amaurosis 2; Retinitis pigmentosa 20 2018-01-04 criteria provided, single submitter clinical testing
Invitae RCV000671895 SCV001021570 benign Leber congenital amaurosis 2; Retinitis pigmentosa 20 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001100476 SCV001256998 uncertain significance Leber congenital amaurosis 2 2017-12-28 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001100477 SCV001256999 likely benign Retinitis pigmentosa 2017-12-28 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV000085236 SCV001886309 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Retina International RCV000085236 SCV000117373 not provided not provided no assertion provided not provided

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