ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.1202C>T (p.Thr401Met)

gnomAD frequency: 0.00001  dbSNP: rs200825036
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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 RCV002028740 SCV002294702 likely benign not provided 2024-10-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003418323 SCV004107901 uncertain significance RAI1-related disorder 2024-04-19 no assertion criteria provided clinical testing The RAI1 c.1202C>T variant is predicted to result in the amino acid substitution p.Thr401Met. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0054% of alleles in individuals of East Asian 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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