ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.4195G>A (p.Glu1399Lys)

gnomAD frequency: 0.00003  dbSNP: rs62642573
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg RCV000132591 SCV000281880 likely pathogenic Severe early-childhood-onset retinal dystrophy 2016-01-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000085609 SCV001249459 pathogenic not provided 2018-05-01 criteria provided, single submitter clinical testing
Invitae RCV000085609 SCV002144521 pathogenic not provided 2021-10-22 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 1399 of the ABCA4 protein (p.Glu1399Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs62642573, ExAC 0.006%). This missense change has been observed in individual(s) with Stargardt disease (PMID: 10958763, 28118664). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 99256). 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 C55"). For these reasons, this variant has been classified as Pathogenic.
Retina International RCV000085609 SCV000117748 not provided not provided no assertion provided not provided
Department of Ophthalmology and Visual Sciences Kyoto University RCV000132591 SCV000172535 pathogenic Severe early-childhood-onset retinal dystrophy no assertion criteria provided not provided Converted during submission to Pathogenic.

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