ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.2392C>T (p.Pro798Ser)

gnomAD frequency: 0.00002  dbSNP: rs148947371
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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 RCV001974481 SCV002213073 benign not provided 2023-07-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004743669 SCV005349320 uncertain significance RAI1-related disorder 2023-12-12 no assertion criteria provided clinical testing The RAI1 c.2392C>T variant is predicted to result in the amino acid substitution p.Pro798Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0063% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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