ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.901G>T (p.Glu301Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002863686 SCV003232532 pathogenic Hajdu-Cheney syndrome 2023-08-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu301*) in the NOTCH2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NOTCH2 are known to be pathogenic (PMID: 16773578, 22209762). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 2029083). This variant has not been reported in the literature in individuals affected with NOTCH2-related conditions. This variant is not present in population databases (gnomAD no frequency).

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