ClinVar Miner

Submissions for variant NM_172071.4(RC3H1):c.437T>C (p.Val146Ala)

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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 RCV003224722 SCV003920389 uncertain significance Hemophagocytic lymphohistiocytosis, familial, 6 2022-11-09 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 0.5% [343/68018] including 1 homozygote; https://gnomad.broadinstitute.org/variant/1-173983573-A-G?dataset=gnomad_r3). Evolutionary conservation and computational prediction tools suggest that this variant may 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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