ClinVar Miner

Submissions for variant NM_006118.4(HAX1):c.221G>A (p.Arg74His)

gnomAD frequency: 0.00004  dbSNP: rs151225652
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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 RCV001281016 SCV001468420 uncertain significance Kostmann syndrome 2021-03-30 criteria provided, single submitter clinical testing HAX1 NM_006118.3 exon 2 p.Arg74His (c.221G>A): This variant has not been reported in the literature but is present in 0.04% (10/24972) of African alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/1-154245979-G-A?dataset=gnomad_r2_1). 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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