ClinVar Miner

Submissions for variant NM_014009.4(FOXP3):c.928A>G (p.Arg310Gly)

dbSNP: rs782635427
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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 RCV000817347 SCV000957901 uncertain significance Insulin-dependent diabetes mellitus secretory diarrhea syndrome 2018-10-01 criteria provided, single submitter clinical testing The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with FOXP3-related disease. This sequence change replaces arginine with glycine at codon 310 of the FOXP3 protein (p.Arg310Gly). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and glycine.

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