ClinVar Miner

Submissions for variant NM_014009.4(FOXP3):c.506G>A (p.Cys169Tyr)

dbSNP: rs1284218417
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001049743 SCV001213811 uncertain significance Insulin-dependent diabetes mellitus secretory diarrhea syndrome 2022-04-15 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 169 of the FOXP3 protein (p.Cys169Tyr). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of IPEX syndrome (PMID: 33833438). ClinVar contains an entry for this variant (Variation ID: 846441). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The tyrosine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Fulgent Genetics, Fulgent Genetics RCV001049743 SCV002788527 uncertain significance Insulin-dependent diabetes mellitus secretory diarrhea syndrome 2022-01-05 criteria provided, single submitter clinical testing

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