Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV004527401 | SCV005038770 | likely benign | RPE65-related recessive retinopathy | 2024-04-22 | reviewed by expert panel | curation | NM_000329.3(RPE65):c.441A>C (p.Thr147=) is a synonymous variant located in exon 5. This variant is present in gnomAD v.2.1.1 at a GrpMax allele frequency of 0.006282, with 142 alleles/19954 total alleles in the East Asian population, which is higher than the ClinGen LCA / eoRD VCEP BS1 threshold of >0.0008 (BS1). The splicing impact predictor SpliceAI gives a delta score of 0.05 for donor gain, 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, and BP7. (VCEP specifications version 1.0.0; date of approval 09/21/2023). |
Labcorp Genetics |
RCV000889235 | SCV001032902 | benign | Leber congenital amaurosis 2; Retinitis pigmentosa 20 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001102521 | SCV001259199 | uncertain significance | Retinitis pigmentosa | 2017-04-28 | 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). 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, |
RCV001102522 | SCV001259200 | likely benign | Leber congenital amaurosis 2 | 2017-04-28 | 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Dept Of Ophthalmology, |
RCV003890018 | SCV004706385 | likely benign | Retinal dystrophy | 2023-10-01 | criteria provided, single submitter | research | |
Natera, |
RCV001275286 | SCV001460286 | benign | Leber congenital amaurosis | 2019-11-11 | no assertion criteria provided | clinical testing |