ClinVar Miner

Submissions for variant NM_005360.5(MAF):c.916C>G (p.Arg306Gly)

dbSNP: rs1913781557
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001224384 SCV001396574 uncertain significance Cataract 21 multiple types; Ayme-Gripp syndrome 2019-05-23 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with MAF-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with glycine at codon 306 of the MAF protein (p.Arg306Gly). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and glycine. 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. 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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