ClinVar Miner

Submissions for variant NM_014009.4(FOXP3):c.616_618del (p.Lys206del)

dbSNP: rs2066076242
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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 RCV001222928 SCV001395051 uncertain significance Insulin-dependent diabetes mellitus secretory diarrhea syndrome 2021-06-25 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available or were not evaluated for this variant, and the functional significance of the affected amino acid(s) is currently unknown. This variant, c.616_618del, results in the deletion of 1 amino acid(s) of the FOXP3 protein (p.Lys206del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with FOXP3-related conditions.

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