ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.5407C>G (p.Arg1803Gly)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003130385 SCV003813702 uncertain significance Smith-Magenis syndrome 2021-01-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV003250853 SCV003964926 uncertain significance Inborn genetic diseases 2023-03-29 criteria provided, single submitter clinical testing The c.5407C>G (p.R1803G) alteration is located in exon 3 (coding exon 1) of the RAI1 gene. This alteration results from a C to G substitution at nucleotide position 5407, causing the arginine (R) at amino acid position 1803 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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