ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.6139del (p.Arg2047fs)

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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 RCV003986030 SCV004801864 likely pathogenic Alagille syndrome due to a NOTCH2 point mutation; Hajdu-Cheney syndrome criteria provided, single submitter clinical testing A previously undescribed nucleotide variant creates a frameshift p.Arg2047GlyfsTer21 in the NOTCH2 gene. The variant was observed in heterozygous state in an individual affected with terminal hydronephrosis and cystic kidney. Loss-of-function variants are reported in patients with Alagille syndrome 2, 610205, Hajdu-Cheney syndrome, 102500. 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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