Total submissions: 13
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000513566 | SCV000609218 | likely benign | not provided | 2024-01-01 | criteria provided, single submitter | clinical testing | EYS: BP4 |
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000625446 | SCV000745373 | likely benign | Retinitis pigmentosa 25 | 2017-06-23 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000625446 | SCV000794865 | uncertain significance | Retinitis pigmentosa 25 | 2017-10-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000513566 | SCV001118443 | likely benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Blueprint Genetics | RCV001074080 | SCV001239649 | uncertain significance | Retinal dystrophy | 2018-12-15 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000504943 | SCV001319940 | uncertain significance | Retinitis pigmentosa | 2018-01-12 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |
Gene |
RCV000513566 | SCV001859809 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 32581362, 28041643) |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001700135 | SCV004241059 | likely benign | not specified | 2023-12-13 | criteria provided, single submitter | clinical testing | Variant summary: EYS c.977G>A (p.Ser326Asn) results in a conservative amino acid change located in the EGF-like domain (IPR000742) of the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.0018 in 250760 control chromosomes, predominantly at a frequency of 0.0082 within the African or African-American subpopulation in the gnomAD database. The observed variant frequency within African or African-American control individuals in the gnomAD database is approximately 2 fold of the estimated maximal expected allele frequency for a pathogenic variant in EYS causing Retinitis Pigmentosa phenotype (0.0034), strongly suggesting that the variant is a benign polymorphism found primarily in populations of African or African-American origin. c.977G>A has been reported in the literature in individuals affected with Retinitis Pigmentosa (Audo_2010, Wang_2014, El Shamieh_2015, Dieiro_2020). These reports do not provide unequivocal conclusions about association of the variant with Retinitis Pigmentosa. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 20333770, 32483926, 25692139, 32581362, 25097241). Ten submitters have cited clinical-significance assessments for this variant to ClinVar after 2014 and classified this variant as likely pathogenic (n=1), uncertain significance (n=5), likely benign (n=3) and benign (n=1). Based on the evidence outlined above, the variant was classified as likely benign. |
Prevention |
RCV003915401 | SCV004731749 | benign | EYS-related condition | 2020-12-16 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
NIHR Bioresource Rare Diseases, |
RCV000504943 | SCV000599168 | likely pathogenic | Retinitis pigmentosa | 2015-01-01 | no assertion criteria provided | research | |
Department of Clinical Genetics, |
RCV000504943 | SCV000926929 | uncertain significance | Retinitis pigmentosa | 2018-04-01 | no assertion criteria provided | research | |
Natera, |
RCV001277019 | SCV001463752 | uncertain significance | Autosomal recessive retinitis pigmentosa | 2020-06-17 | no assertion criteria provided | clinical testing | |
Clinical Genetics, |
RCV001700135 | SCV001924471 | benign | not specified | no assertion criteria provided | clinical testing |