ClinVar Miner

Submissions for variant NM_014009.4(FOXP3):c.492G>C (p.Glu164Asp)

dbSNP: rs2147948631
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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 RCV001903106 SCV002166756 uncertain significance Insulin-dependent diabetes mellitus secretory diarrhea syndrome 2021-05-19 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with aspartic acid at codon 164 of the FOXP3 protein (p.Glu164Asp). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and aspartic acid. 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 conditions. This variant is not present in population databases (ExAC no frequency).

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