ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.4637A>G (p.Lys1546Arg)

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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 RCV003690827 SCV004448722 benign not provided 2024-01-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003966570 SCV004783710 uncertain significance RAI1-related disorder 2024-01-23 no assertion criteria provided clinical testing The RAI1 c.4637A>G variant is predicted to result in the amino acid substitution p.Lys1546Arg. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0050% 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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