ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.2225A>G (p.Asn742Ser)

gnomAD frequency: 0.00005  dbSNP: rs527512369
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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 RCV002315428 SCV000849301 uncertain significance Inborn genetic diseases 2017-04-20 criteria provided, single submitter clinical testing The p.N742S variant (also known as c.2225A>G), located in coding exon 1 of the RAI1 gene, results from an A to G substitution at nucleotide position 2225. The asparagine at codon 742 is replaced by serine, an amino acid with highly 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 RCV002067040 SCV002408329 benign not provided 2023-12-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003938077 SCV004747125 uncertain significance RAI1-related disorder 2023-12-16 no assertion criteria provided clinical testing The RAI1 c.2225A>G variant is predicted to result in the amino acid substitution p.Asn742Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0035% of alleles in individuals of European (Non-Finnish) 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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