ClinVar Miner

Submissions for variant NM_001369369.1(FOXN1):c.1454C>T (p.Pro485Leu)

gnomAD frequency: 0.00025  dbSNP: rs374049334
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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 RCV000794643 SCV000934064 uncertain significance T-cell immunodeficiency, congenital alopecia, and nail dystrophy 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 485 of the FOXN1 protein (p.Pro485Leu). This variant is present in population databases (rs374049334, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with FOXN1-related conditions. ClinVar contains an entry for this variant (Variation ID: 641408). 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: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Baylor Genetics RCV000794643 SCV001523010 uncertain significance T-cell immunodeficiency, congenital alopecia, and nail dystrophy 2019-07-23 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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