ClinVar Miner

Submissions for variant NM_001369369.1(FOXN1):c.1021del (p.Arg341fs)

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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 RCV003017934 SCV003305013 pathogenic T-cell immunodeficiency, congenital alopecia, and nail dystrophy 2022-01-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the FOXN1 protein in which other variant(s) (p.Gln489Argfs*61) have been determined to be pathogenic (PMID: 31566583). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with FOXN1-related conditions. This variant is present in population databases (rs762643472, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Arg341Alafs*209) in the FOXN1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 308 amino acid(s) of the FOXN1 protein.

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