ClinVar Miner

Submissions for variant NM_019098.4(CNGB3):c.1208G>A (rs147876778)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000435881 SCV000225390 likely benign not specified 2015-04-22 criteria provided, single submitter clinical testing
GeneDx RCV000435881 SCV000512655 likely benign not specified 2016-11-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000501136 SCV000588362 pathogenic Abnormality of the eye 2017-06-18 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,Institute for Ophthalmic Research RCV000597492 SCV000700212 pathogenic Achromatopsia 2018-03-20 criteria provided, single submitter research
Invitae RCV000132679 SCV001105918 benign not provided 2020-12-05 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001164460 SCV001326587 likely benign Stargardt disease 1 2017-04-27 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.
Broad Institute Rare Disease Group, Broad Institute RCV001164460 SCV001435146 likely benign Stargardt disease 1 criteria provided, single submitter research The p.Arg403Gln variant in CNGB3 has been identified in 3 homozygous Pakistani individuals with progressive cone dystrophy, 1 homozygous Pakistani individual with complete achromatopsia, and in the heterozygous state in 1 individual with progressive cone dystrophy, segregated with eye disease in 4 relatives from 1 family (PMID: 15161866, 24504161), and has been identified in >2% of South Asian chromosomes and 13 homozygotes by ExAC (http://gnomad.broadinstitute.org/). In vitro functional studies provide some evidence that the p.Arg403Gln variant may slightly impact protein function (PMID: 16379026). However, these types of assays may not accurately represent biological function. In summary, although additional studies are required to fully establish its clinical significance, this variant meets criteria to be classified as likely benign for autosomal recessive progressive cone dystrophy.
Nilou-Genome Lab RCV000174144 SCV001737262 likely benign Achromatopsia 3 2021-05-18 criteria provided, single submitter clinical testing
Department of Ophthalmology and Visual Sciences Kyoto University RCV000132679 SCV000172631 probable-non-pathogenic not provided no assertion criteria provided not provided Converted during submission to Likely benign.
Molecular Genetics Laboratory,Institute for Ophthalmic Research RCV000174144 SCV000575809 likely pathogenic Achromatopsia 3 2017-03-27 no assertion criteria provided research
Human Genetics - Radboudumc,Radboudumc RCV000678546 SCV000804624 uncertain significance Retinitis pigmentosa 2016-09-01 no assertion criteria provided clinical testing
Sharon lab,Hadassah-Hebrew University Medical Center RCV000597492 SCV001161027 pathogenic Achromatopsia 2019-06-23 no assertion criteria provided research
Natera, Inc. RCV000597492 SCV001455000 uncertain significance Achromatopsia 2020-01-08 no assertion criteria provided clinical testing

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