ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.1654G>A (p.Val552Ile)

gnomAD frequency: 0.00246  dbSNP: rs145525174
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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) RCV000174239 SCV000225508 likely benign not specified 2017-01-09 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV001075051 SCV000281825 likely benign Retinal dystrophy 2023-01-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000378123 SCV000359472 likely benign Cone-Rod Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000286087 SCV000359473 likely benign Stargardt Disease, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000343411 SCV000359474 likely benign Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000390005 SCV000359475 likely benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000416079 SCV000493311 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing ABCA4: BS2
Labcorp Genetics (formerly Invitae), Labcorp RCV000416079 SCV001025304 benign not provided 2025-01-30 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001100050 SCV001256551 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 RCV000416079 SCV001890177 likely benign not provided 2020-02-05 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 29386879, 31766579, 28559085, 30718709, 29925512, 19243736, 19028736, 10958763, 22229821, 29555955, 29847635, 28118664, 26593885, 26720470, 18024811, 24265693)
Blueprint Genetics RCV001075051 SCV001240662 uncertain significance Retinal dystrophy 2018-06-05 flagged submission clinical testing

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