ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.2690C>T (p.Thr897Ile) (rs61749440)

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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg RCV000408596 SCV000281851 likely pathogenic Stargardt disease 1 2016-01-01 criteria provided, single submitter clinical testing
GeneDx RCV000085500 SCV000321346 uncertain significance not provided 2019-04-05 criteria provided, single submitter clinical testing Reported previously in association with Stargardt disease and cone-rod dystrophy as heterozygous with other ABCA4 variants (Salles et al., 2018) as well as heterozygous without a second variant (Simonelli et al., 2000; Tsipi et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 10711710, 11328725, 22995991, 27014590, 22264887, 21911583, 26103963, 30093795, 28118664, 29178665, 11702214, 29925512, 18161617)
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000085500 SCV000345363 uncertain significance not provided 2016-09-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000260644 SCV000359444 likely benign Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000315748 SCV000359445 likely benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000375069 SCV000359446 likely benign Cone-Rod Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000280747 SCV000359447 likely benign Stargardt Disease, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000085500 SCV001029034 likely benign not provided 2020-11-17 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000085500 SCV001147338 pathogenic not provided 2019-08-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001096530 SCV001252749 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 RCV001197697 SCV001368476 uncertain significance Age-related macular degeneration 2 2018-10-11 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence favors the benign nature of this variant, however the evidence is insufficent to prove its benign nature. The following ACMG criteria were applied in classifying this variant: BP6.
Retina International RCV000085500 SCV000117637 not provided not provided no assertion provided not provided
Clinical Genetics,Academic Medical Center RCV000085500 SCV001922726 uncertain significance not provided no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000085500 SCV001958534 uncertain significance not provided no assertion criteria provided clinical testing

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