ClinVar Miner

Submissions for variant NM_003721.4(RFXANK):c.95C>T (p.Ala32Val)

gnomAD frequency: 0.00156  dbSNP: rs114064359
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000647950 SCV000769758 likely benign MHC class II deficiency 2023-12-07 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000647950 SCV000898932 uncertain significance MHC class II deficiency 2021-03-30 criteria provided, single submitter clinical testing RFXANK NM_003721 exon 3 p.Ala32Val (c.95C>T):This variant has not been reported in the literature but is present in 99/20432 African alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs114064359). 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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