ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile) (rs1801466)

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Total submissions: 19
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000178424 SCV000166748 benign not specified 2011-07-14 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 RCV000178424 SCV000230500 benign not specified 2014-05-20 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000178424 SCV000303765 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000293913 SCV000359264 likely benign Cone-Rod Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000348932 SCV000359265 likely benign Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000391356 SCV000359266 likely benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000309306 SCV000359267 likely benign Stargardt Disease, Recessive 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000085744 SCV000493309 uncertain significance not provided 2017-07-01 criteria provided, single submitter clinical testing
Mendelics RCV000721173 SCV001135331 uncertain significance Stargardt disease 1 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001097975 SCV001254309 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 RCV001197336 SCV001368030 uncertain significance Age-related macular degeneration 2 2019-06-27 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence favors the pathogenic nature of this variant, however the currently available data is insufficient to conclusively support its pathogenic nature. Thus this variant is classified as Uncertain significance - favor pathogenic. The following ACMG criteria were applied in classifying this variant: PP2,PP3,BS1.
Institute of Human Genetics, University of Leipzig Medical Center RCV001262623 SCV001440560 uncertain significance Cone-rod dystrophy 3 2019-01-01 criteria provided, single submitter clinical testing This variant was identified as compound heterozygous.
Institute of Medical Molecular Genetics, University of Zurich RCV000721173 SCV001548165 likely pathogenic Stargardt disease 1 2021-01-30 criteria provided, single submitter clinical testing
Invitae RCV000085744 SCV001731765 benign not provided 2020-11-17 criteria provided, single submitter clinical testing
Broad Institute Rare Disease Group, Broad Institute RCV001723669 SCV001950192 likely pathogenic Retinitis pigmentosa 2021-04-01 criteria provided, single submitter curation The p.Asn1868Ile variant in ABCA4 was identified in an individual with Retinitis pigmentosa, via a collaborative study between the Broad Institute's Center for Mendelian Genomics and the Pierce lab (https://oculargenomics.meei.harvard.edu/labs/pierce-lab/lab-members/). Through a review of available evidence we were able to apply the following criteria: PS3, PM3, PM3, BP2. Based on this evidence we have classified this variant as Likely Pathogenic. If you have any questions about the classification please reach out to the Pierce Lab.
Retina International RCV000085744 SCV000117885 not provided not provided no assertion provided not provided
Molecular Vision Laboratory RCV000721173 SCV000852088 other Stargardt disease 1 2018-09-10 no assertion criteria provided clinical testing Asn1868Ile has been found to be associated with autosomal recessive Stargardt disease (STGD1). Its presence explained >40% of monoallelic ABCA4 carriers in two separate STGD1 cohorts. Penetrance was estimated to be less than 5% based on expected incidence of Asn1868Ile combinations with severe ABCA4 mutations and estimated prevalence of cases due to these combinations in a STGD1 cohort.
Sharon lab,Hadassah-Hebrew University Medical Center RCV001002812 SCV001160826 likely pathogenic Stargardt disease 2019-06-23 no assertion criteria provided research
Clinical Genetics,Academic Medical Center RCV000085744 SCV001923534 likely pathogenic not provided no assertion criteria provided clinical testing

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