ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.367dup (p.Ala123fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology RCV003986039 SCV004801877 likely pathogenic Smith-Magenis syndrome criteria provided, single submitter clinical testing A previously undescribed nucleotide variant creates a frameshift p.Ala123GlyfsTer20 in the RAI1 gene. The variant was observed in heterozygous state in an individual affected with polycystic kidney disease, hypertrophic cardiomyopathy, and dysmorphic features. Loss-of-function variants are reported in patients with Smith-Magenis syndrome, 182290. The variant is not present in population database (gnomAD no frequency). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as likely pathogenic.

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