ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.6193_6194dup (p.Asn2066fs)

dbSNP: rs2101144806
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion, Medical Genetics RCV002251270 SCV002521851 likely pathogenic Hajdu-Cheney syndrome 2022-05-22 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Frameshift: predicted to result in a loss or disruption of normal protein function through protein truncation. The predicted truncated protein may be shortened by more than 10%. Most of the known pathogenic variants occurs in the same region, the last exon of the gene. Truncated protein is expect to exert persistent Notch intracellular signal (PMID: 21378985). Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.

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