ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.1580G>A (p.Arg527His)

gnomAD frequency: 0.00011  dbSNP: rs377314203
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192352 SCV000248657 uncertain significance not specified 2014-05-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001857698 SCV002125072 benign not provided 2023-09-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003401057 SCV004110762 uncertain significance RAI1-related disorder 2024-04-25 no assertion criteria provided clinical testing The RAI1 c.1580G>A variant is predicted to result in the amino acid substitution p.Arg527His. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.041% of alleles in individuals of African descent in gnomAD, which may be to common to be a primary cause of disease. Although we suspect this variant may be benign, at this time its clinical significance is uncertain due to the absence of conclusive functional and genetic evidence.

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