ClinVar Miner

Submissions for variant NM_001369369.1(FOXN1):c.1050G>A (p.Pro350=)

gnomAD frequency: 0.00004  dbSNP: rs150671729
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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 RCV000795694 SCV000935164 likely benign T-cell immunodeficiency, congenital alopecia, and nail dystrophy 2023-12-08 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224472 SCV003919989 uncertain significance T-cell immunodeficiency, congenital alopecia, and nail dystrophy; T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant 2022-10-04 criteria provided, single submitter clinical testing This variant has not been reported in the literature but is present in the Genome Aggregation Database (Highest reported MAF 0.009% (4/41432) (https://gnomad.broadinstitute.org/variant/17-28534453-G-A?dataset=gnomad_r3). This variant is present in ClinVar (Variation ID:642263). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Breakthrough Genomics, Breakthrough Genomics RCV004693265 SCV005192784 uncertain significance not provided criteria provided, single submitter not provided

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