ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.1960G>A (p.Ala654Thr)

gnomAD frequency: 0.00004  dbSNP: rs749791172
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001565830 SCV001789257 likely benign not provided 2019-09-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001565830 SCV002258667 benign not provided 2023-10-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004743551 SCV005362120 uncertain significance RAI1-related disorder 2024-04-11 no assertion criteria provided clinical testing The RAI1 c.1960G>A variant is predicted to result in the amino acid substitution p.Ala654Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.012% of alleles in individuals of African descent in gnomAD. Although we suspect that this variant may be benign, 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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