ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.1190A>G (p.Asn397Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV005065348 SCV005690604 uncertain significance Smith-Magenis syndrome criteria provided, single submitter clinical testing The observed missense c.1190A>G (p.Asn397Ser) variant in RAI1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Asn397Ser variant is absent in gnomAD Exomes. This variant has not been submitted to the ClinVar database. Multiple lines of computational evidence (Polyphen - Possibly damaging, SIFT - Tolerated and MutationTaster - Disease causing) predicts conflicting evidence on protein structure and function for this variant. The reference amino acid at this position on RAI1 gene is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Asn at position 397 is changed to a Ser changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as Variant of Uncertain Significance (VUS).

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