ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.1532G>A (p.Arg511His) (rs140482171)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000512657 SCV000335433 uncertain significance not provided 2016-10-07 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000270788 SCV000359484 likely benign Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000328209 SCV000359485 likely benign Cone-Rod Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000385092 SCV000359486 likely benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000264059 SCV000359487 likely benign Stargardt Disease, Recessive 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000512657 SCV000608483 uncertain significance not provided 2018-10-01 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001073584 SCV001239135 uncertain significance Retinal dystrophy 2019-07-05 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001102037 SCV001258685 uncertain significance ABCA4-Related Disorders 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.
NIHR Bioresource Rare Diseases, University of Cambridge RCV000505101 SCV000598934 likely pathogenic Stargardt disease 1 2015-01-01 no assertion criteria provided research
GenomeConnect, ClinGen RCV000844930 SCV000986746 not provided Stargardt disease no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 12/28/2017 by GTR ID 239772. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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