ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln) (rs1801581)

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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000152706 SCV000166770 benign not specified 2011-07-12 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000152706 SCV000202091 benign not specified 2013-11-26 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000152706 SCV000303753 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000399411 SCV000359432 likely benign Stargardt Disease, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000294335 SCV000359433 likely benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000349295 SCV000359434 likely benign Cone-Rod Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000392936 SCV000359435 likely benign Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000152706 SCV000884934 benign not specified 2018-07-05 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001101950 SCV001258594 likely benign ABCA4-Related Disorders 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.
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001198394 SCV001369318 uncertain significance Progressive visual loss; Cone/cone-rod dystrophy; Blurred vision 2019-09-05 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this varinat's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PP3. This variant was detected in heterozygous state.
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001199366 SCV001370465 uncertain significance Reduced visual acuity; Macular dystrophy 2019-08-21 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PS1,PM2. This variant was detected in heterozygous state.
OMIM RCV000008374 SCV000028582 risk factor MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO 2002-06-14 no assertion criteria provided literature only
OMIM RCV000008375 SCV000028583 pathogenic Stargardt disease 1 2002-06-14 no assertion criteria provided literature only
Retina International RCV000085512 SCV000117649 not provided not provided no assertion provided not provided
Sharon lab,Hadassah-Hebrew University Medical Center RCV001002837 SCV001160857 likely pathogenic Stargardt disease 2019-06-23 no assertion criteria provided research

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