ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.6764G>T (p.Ser2255Ile)

gnomAD frequency: 0.17582  dbSNP: rs6666652
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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000178683 SCV000166761 benign not specified 2011-07-13 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.
Eurofins Ntd Llc (ga) RCV000178683 SCV000230810 benign not specified 2014-08-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000178683 SCV000303784 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000340209 SCV000359179 benign Stargardt Disease, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000376116 SCV000359180 benign Cone-Rod Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000281600 SCV000359181 benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000336644 SCV000359182 benign Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000085855 SCV000602333 benign not provided 2023-11-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001097882 SCV001254208 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV000085855 SCV001723088 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505018 SCV002795888 benign Cone-rod dystrophy 3; Age related macular degeneration 2; Severe early-childhood-onset retinal dystrophy; Retinitis pigmentosa 19 2021-07-15 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003888485 SCV004705585 benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Breakthrough Genomics, Breakthrough Genomics RCV000085855 SCV005281497 benign not provided criteria provided, single submitter not provided
Retina International RCV000085855 SCV000117998 not provided not provided no assertion provided not provided
Department of Ophthalmology and Visual Sciences Kyoto University RCV000085855 SCV000172540 probable-non-pathogenic not provided no assertion criteria provided not provided Converted during submission to Likely benign.

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