ClinVar Miner

Submissions for variant NM_018418.5(SPATA7):c.1627G>A (p.Gly543Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002794867 SCV003026996 uncertain significance Leber congenital amaurosis 3 2022-05-04 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 543 of the SPATA7 protein (p.Gly543Ser). This variant is present in population databases (rs755789014, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with SPATA7-related conditions. 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 tolerated. 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.

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