ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.2737G>A (p.Gly913Ser)

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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 RCV002999214 SCV003297312 benign not provided 2023-11-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004744523 SCV005353344 uncertain significance RAI1-related disorder 2023-12-24 no assertion criteria provided clinical testing The RAI1 c.2737G>A variant is predicted to result in the amino acid substitution p.Gly913Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0098% of alleles in individuals of South 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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