ClinVar Miner

Submissions for variant NM_001369369.1(FOXN1):c.92C>T (p.Pro31Leu)

gnomAD frequency: 0.00011  dbSNP: rs771909592
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001239259 SCV001412117 uncertain significance T-cell immunodeficiency, congenital alopecia, and nail dystrophy 2023-12-02 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 31 of the FOXN1 protein (p.Pro31Leu). This variant is present in population databases (rs771909592, gnomAD 0.04%). 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: 964931). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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 RCV001239259 SCV004183549 uncertain significance T-cell immunodeficiency, congenital alopecia, and nail dystrophy 2023-11-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV004034605 SCV004871598 uncertain significance Inborn genetic diseases 2024-01-04 criteria provided, single submitter clinical testing The c.92C>T (p.P31L) alteration is located in exon 1 (coding exon 1) of the FOXN1 gene. This alteration results from a C to T substitution at nucleotide position 92, causing the proline (P) at amino acid position 31 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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