ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.6127C>A (p.Pro2043Thr)

dbSNP: rs763230559
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001065980 SCV001230973 uncertain significance not provided 2021-01-12 criteria provided, single submitter clinical testing This variant is present in population databases (rs763230559, ExAC 0.01%). This sequence change replaces proline with threonine at codon 2043 of the ABCA4 protein (p.Pro2043Thr). The proline residue is highly conserved and there is a small physicochemical difference between proline and threonine. This variant has not been reported in the literature in individuals with ABCA4-related conditions. 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain.

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