ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.2488G>A (p.Glu830Lys)

gnomAD frequency: 0.00002  dbSNP: rs754955930
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002313566 SCV000848653 uncertain significance Inborn genetic diseases 2017-01-18 criteria provided, single submitter clinical testing The p.E830K variant (also known as c.2488G>A), located in coding exon 1 of the RAI1 gene, results from a G to A substitution at nucleotide position 2488. The glutamic acid at codon 830 is replaced by lysine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001868350 SCV002296156 likely benign not provided 2024-09-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004742588 SCV005348516 uncertain significance RAI1-related disorder 2024-03-22 no assertion criteria provided clinical testing The RAI1 c.2488G>A variant is predicted to result in the amino acid substitution p.Glu830Lys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0098% of alleles in individuals of Latino 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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