Total submissions: 13
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV005053894 | SCV005687740 | benign | GUCY2D-related recessive retinopathy | 2025-01-30 | reviewed by expert panel | curation | NM_000180.4(GUCY2D):c.2101C>T (p.Pro701Ser) is a missense variant that is predicted to replace proline at position p.701 with serine. This variant is present in gnomAD v.4.1.0 at a Grpmax allele frequency of 0.2041, with 9318 / 44874 alleles in the East Asian population, which is higher than the ClinGen LCA / eoRD VCEP BA1 threshold of >0.016 (BA1). This variant has been found in the homozygous state in 2099 adult individuals in gnomAD which exceeds the LCA/eoRD VCEP threshold of >6 (gnomAD version 4.1.0; BS2). The computational predictor REVEL gives a score of 0.27, which is below the ClinGen LCA / eoRD VCEP threshold of <0.290 and predicts a non-damaging effect on RetGC-1 protein function. In addition, the splicing impact predictor SpliceAI gives a delta score of 0, which is below the ClinGen LCA/eoRD VCEP recommended threshold of <0.1 and does not predict an impact on splicing (BP4). In summary, this variant meets the criteria to be classified as Benign for GUCY2D-related recessive retinopathy based on the ACMG/AMP criteria applied, as specified by the ClinGen LCA/eoRD VCEP:BA1, BS2, BP4 (VCEP specifications version 1.0.0; date of approval 01/22/2025). |
Eurofins Ntd Llc |
RCV000173653 | SCV000224788 | benign | not specified | 2014-10-03 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000173653 | SCV000302885 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Laboratory for Molecular Medicine, |
RCV000173653 | SCV000539262 | benign | not specified | 2016-03-28 | criteria provided, single submitter | clinical testing | Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency in 1000Genomes: 180/2178=8.2% |
ARUP Laboratories, |
RCV000084851 | SCV001157142 | benign | not provided | 2023-11-29 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001518412 | SCV001727098 | benign | Cone-rod dystrophy 6; Leber congenital amaurosis 1 | 2025-02-03 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000084851 | SCV001895586 | benign | not provided | 2018-11-12 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 27884173, 11035546, 23424971, 20981092, 18055820, 15111605) |
Fulgent Genetics, |
RCV002498446 | SCV002807163 | benign | Choroidal dystrophy, central areolar, 1; Cone-rod dystrophy 6; Leber congenital amaurosis 1; Night blindness, congenital stationary, type1i | 2021-09-01 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV004815025 | SCV005072132 | benign | Retinal dystrophy | 2018-01-01 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV000084851 | SCV005218693 | likely benign | not provided | criteria provided, single submitter | not provided | ||
Retina International | RCV000084851 | SCV000116987 | not provided | not provided | no assertion provided | not provided | ||
Department of Ophthalmology and Visual Sciences Kyoto University | RCV000084851 | SCV000172506 | probable-non-pathogenic | not provided | no assertion criteria provided | not provided | Converted during submission to Likely benign. | |
Laboratory of Genetics in Ophthalmology, |
RCV001250835 | SCV001426325 | likely benign | Leber congenital amaurosis 1 | no assertion criteria provided | research |