ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.2074G>A (p.Val692Met)

gnomAD frequency: 0.00004  dbSNP: rs398124415
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000082259 SCV000114208 uncertain significance not provided 2013-08-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000082259 SCV003280647 benign not provided 2023-09-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004742251 SCV005349043 uncertain significance RAI1-related disorder 2024-06-19 no assertion criteria provided clinical testing The RAI1 c.2074G>A variant is predicted to result in the amino acid substitution p.Val692Met. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.010% 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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