ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.295G>A (p.Gly99Ser)

gnomAD frequency: 0.00004  dbSNP: rs146679063
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001982821 SCV002222064 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004744171 SCV005346751 uncertain significance RAI1-related disorder 2024-04-30 no assertion criteria provided clinical testing The RAI1 c.295G>A variant is predicted to result in the amino acid substitution p.Gly99Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.030% of alleles in individuals of African descent in gnomAD, which may be too frequent to be a primary cause of disease. Although we suspect that c.295G>A (p.Gly99Ser) may be benign, the clinical significance of this variant is currently classified as uncertain due to the absence of conclusive functional and genetic evidence.

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