ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.1748G>A (p.Ser583Asn)

dbSNP: rs1057519065
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital RCV000416345 SCV000485090 uncertain significance Smith-Magenis syndrome 2016-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002402113 SCV002711614 uncertain significance Inborn genetic diseases 2019-04-11 criteria provided, single submitter clinical testing The p.S583N variant (also known as c.1748G>A), located in coding exon 1 of the RAI1 gene, results from a G to A substitution at nucleotide position 1748. The serine at codon 583 is replaced by asparagine, 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.

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