ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.6805C>T (p.Arg2269Ter)

gnomAD frequency: 0.00001  dbSNP: rs372234578
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001097881 SCV001254207 uncertain significance ABCA4-related disorder 2018-10-12 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001856321 SCV002293160 uncertain significance not provided 2022-09-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg2269*) in the ABCA4 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 5 amino acid(s) of the ABCA4 protein. This variant is present in population databases (rs372234578, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with ABCA4-related conditions. ClinVar contains an entry for this variant (Variation ID: 874699). This variant disrupts a region of the ABCA4 protein in which other variant(s) (p.Gln2272Arg) have been observed in individuals with ABCA4-related conditions (Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002489742 SCV002799597 uncertain significance Cone-rod dystrophy 3; Age related macular degeneration 2; Severe early-childhood-onset retinal dystrophy; Retinitis pigmentosa 19 2022-03-03 criteria provided, single submitter clinical testing

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