ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.656G>C (p.Arg219Thr) (rs61748537)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg RCV000408468 SCV000281809 likely pathogenic Stargardt disease 1 2016-01-01 criteria provided, single submitter clinical testing
GeneDx RCV000085831 SCV000321331 uncertain significance not provided 2019-03-23 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; This variant is associated with the following publications: (PMID: 19243736, 25444351, 26720470, 14517951, 17982420, 20398653, 25681002, 23953153, 20029649, 29555955, 28118664, 29925512)
CeGaT Praxis fuer Humangenetik Tuebingen RCV000085831 SCV000608486 uncertain significance not provided 2017-06-01 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001073757 SCV001239317 uncertain significance Retinal dystrophy 2017-11-29 criteria provided, single submitter clinical testing
Invitae RCV000085831 SCV001403273 uncertain significance not provided 2020-09-25 criteria provided, single submitter clinical testing This sequence change replaces arginine with threonine at codon 219 of the ABCA4 protein (p.Arg219Thr). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and threonine. This variant is present in population databases (rs61748537, ExAC 0.008%). This variant has been observed in individuals affected with ABCA4-related disease who also had 2 or more other variants in ABCA4, making the contribution of this variant unclear (PMID: 26720470, 29555955, 19243736, 25444351, 28118664). ClinVar contains an entry for this variant (Variation ID: 99470). 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 C). 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. 5
Retina International RCV000085831 SCV000117974 not provided not provided no assertion provided not provided

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