ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.317A>T (p.Tyr106Phe)

gnomAD frequency: 0.00100  dbSNP: rs201150919
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV000408482 SCV000281806 uncertain significance Severe early-childhood-onset retinal dystrophy 2016-01-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000377526 SCV000359555 likely benign Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000283229 SCV000359556 likely benign Cone-Rod Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000347578 SCV000359557 likely benign Stargardt Disease, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000400700 SCV000359558 likely benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001100157 SCV001256663 uncertain significance ABCA4-related disorder 2018-01-13 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.
Invitae RCV001520655 SCV001729814 benign not provided 2024-01-30 criteria provided, single submitter clinical testing
GeneDx RCV001520655 SCV002032723 uncertain significance not provided 2021-12-01 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Observed with additional variants in the ABCA4 gene in individuals with Stargardt disease or retinitis pigmentosa in published literature, but it is not known whether the variants occurred on the same (in cis) or on different (in trans) chromosomes in all cases (Schulz et al., 2017; Schroeder et al., 2018; Huang et al., 2018); This variant is associated with the following publications: (PMID: 28118664, 29386879, 29641573)
CeGaT Center for Human Genetics Tuebingen RCV001520655 SCV003916472 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing ABCA4: BP4, BS2
Dept Of Ophthalmology, Nagoya University RCV003888650 SCV004706838 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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