ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.3610G>A (p.Asp1204Asn)

gnomAD frequency: 0.00002  dbSNP: rs61750127
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000085587 SCV000705132 uncertain significance not provided 2017-02-23 criteria provided, single submitter clinical testing
Invitae RCV000085587 SCV003300440 uncertain significance not provided 2022-05-09 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 1204 of the ABCA4 protein (p.Asp1204Asn). This variant is present in population databases (rs61750127, gnomAD 0.005%). This missense change has been observed in individual(s) with Stargardt disease and age-related macular degeneration (PMID: 9973280, 15192030, 24409374). ClinVar contains an entry for this variant (Variation ID: 99234). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). 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.
Retina International RCV000085587 SCV000117725 not provided not provided no assertion provided not provided

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