ClinVar Miner

Submissions for variant NM_000043.6(FAS):c.413C>T (p.Thr138Ile)

gnomAD frequency: 0.00002  dbSNP: rs760912307
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV001027785 SCV001190392 uncertain significance Autoimmune lymphoproliferative syndrome type 1 2021-03-30 criteria provided, single submitter clinical testing FAS NM_000043.5 exon4 p.Thr138Ile (c.413C>T): This variant has not been reported in the literature but is present in 0.01% (5/34592) of Latino alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/10-90768724-C-T). Evolutionary conservation and computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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