ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.73T>A (p.Ser25Thr)

gnomAD frequency: 0.00003  dbSNP: rs891764320
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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 RCV002197824 SCV002351565 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003403675 SCV004105675 uncertain significance RAI1-related disorder 2023-07-25 criteria provided, single submitter clinical testing The RAI1 c.73T>A variant is predicted to result in the amino acid substitution p.Ser25Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.013% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/17-17696335-T-A). 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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