ClinVar Miner

Submissions for variant NM_014009.4(FOXP3):c.361C>T (p.His121Tyr)

gnomAD frequency: 0.00007  dbSNP: rs782640594
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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 RCV000908445 SCV001053210 benign Insulin-dependent diabetes mellitus secretory diarrhea syndrome 2023-02-24 criteria provided, single submitter clinical testing
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000908445 SCV004100821 uncertain significance Insulin-dependent diabetes mellitus secretory diarrhea syndrome 2023-09-28 criteria provided, single submitter clinical testing A hemizygous variation in exon 4 of the FOXP3 gene that results in the amino acid substitution of Tyrosine for Histidine at codon 121 was detected. The observed variant c.361C>T (p.His121Tyr) has been reported in the 1000 genomes and gnomAD database with MAF of 0.03 and 0.07% respectively. The in silico prediction of the variant is damaging by SIFT, CADD, REVEL and MVP. In summary, the variant meets our criteria to be classified as a variant of uncertain significance.

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