ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.397C>T (p.Pro133Ser)

gnomAD frequency: 0.00006  dbSNP: rs183251531
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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 RCV001870489 SCV002125757 benign not provided 2024-01-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003416509 SCV004114422 uncertain significance RAI1-related disorder 2023-02-07 criteria provided, single submitter clinical testing The RAI1 c.397C>T variant is predicted to result in the amino acid substitution p.Pro133Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.017% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/17-17696659-C-T). 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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