ClinVar Miner

Submissions for variant NM_014009.4(FOXP3):c.575C>T (p.Pro192Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003143392 SCV003828329 uncertain significance Insulin-dependent diabetes mellitus secretory diarrhea syndrome 2021-07-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV004246146 SCV004872340 uncertain significance Inborn genetic diseases 2024-01-02 criteria provided, single submitter clinical testing The c.575C>T (p.P192L) alteration is located in exon 6 (coding exon 5) of the FOXP3 gene. This alteration results from a C to T substitution at nucleotide position 575, causing the proline (P) at amino acid position 192 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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