ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.5006C>T (p.Thr1669Met)

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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 RCV003725353 SCV004519061 benign not provided 2023-07-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004741685 SCV005357975 uncertain significance RAI1-related disorder 2024-04-25 no assertion criteria provided clinical testing The RAI1 c.5006C>T variant is predicted to result in the amino acid substitution p.Thr1669Met. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.00077% of alleles in individuals of European (Non-Finnish) 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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