ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.4166A>G (p.Gln1389Arg)

gnomAD frequency: 0.00003  dbSNP: rs757354656
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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 RCV001916003 SCV002181817 benign not provided 2023-12-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003426244 SCV004117175 uncertain significance RAI1-related disorder 2024-03-04 no assertion criteria provided clinical testing The RAI1 c.4166A>G variant is predicted to result in the amino acid substitution p.Gln1389Arg. This variant has been reported previously in an individual with Smith-Magenis syndrome and is reported to impact protein activity (Vieira et al. 2012. PubMed ID: 21897445; Carmona-Mora et al. 2012. PubMed ID: 23028815). However, segregation information for the variant was not reported. This variant is reported in 0.020% of alleles in individuals of Latino descent in gnomAD, and has been classified as benign in the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar/variation/1406807/). 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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