ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.4283C>T (p.Thr1428Met)

gnomAD frequency: 0.00160  dbSNP: rs1800549
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176915 SCV000228692 benign not specified 2014-06-09 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000294305 SCV000359327 likely benign Cone-Rod Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000346856 SCV000359328 likely benign Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000408392 SCV000359329 likely benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000307168 SCV000359330 likely benign Stargardt Disease, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000085624 SCV001034517 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001098065 SCV001254407 likely benign ABCA4-related disorder 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.
GeneDx RCV000085624 SCV001943973 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25087612, 23953153, 20981092, 9295268, 32619608)
Dept Of Ophthalmology, Nagoya University RCV003888474 SCV004707434 benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Retina International RCV000085624 SCV000117763 not provided not provided no assertion provided not provided
Department of Ophthalmology and Visual Sciences Kyoto University RCV000085624 SCV000172536 probable-non-pathogenic not provided no assertion criteria provided not provided Converted during submission to Likely benign.

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