ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.776C>T (p.Pro259Leu)

gnomAD frequency: 0.00003  dbSNP: rs758661378
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000500814 SCV000596703 likely benign not specified 2016-07-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002314877 SCV000849294 uncertain significance Inborn genetic diseases 2017-04-04 criteria provided, single submitter clinical testing The p.P259L variant (also known as c.776C>T), located in coding exon 1 of the RAI1 gene, results from a C to T substitution at nucleotide position 776. The proline at codon 259 is replaced by leucine, an amino acid with similar properties. This variant did not co-segregate with disease in 1 individual tested in our laboratory. 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.
Invitae RCV002056874 SCV002329063 likely benign not provided 2024-01-12 criteria provided, single submitter clinical testing

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