ClinVar Miner

Submissions for variant NM_005360.5(MAF):c.895C>T (p.Arg299Cys)

dbSNP: rs786205221
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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 RCV001904986 SCV002126898 pathogenic Cataract 21 multiple types; Ayme-Gripp syndrome 2021-10-04 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Arg299 amino acid residue in MAF. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 17982426, 25064449). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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. This missense change has been observed in individual(s) with bilateral cataracts (Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with cysteine at codon 299 of the MAF protein (p.Arg299Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine.

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