ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.6912dup (p.Val2305fs)

dbSNP: rs2101142622
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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 RCV001895388 SCV002156117 likely pathogenic Hajdu-Cheney syndrome 2023-02-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val2305Cysfs*8) in the NOTCH2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 167 amino acid(s) of the NOTCH2 protein. This protein change is located in a region of the NOTCH2 protein where a significant number of previously reported NOTCH2 nonsense and frameshift mutations are found (PMID: 21378985, 23389697, 26627824). ClinVar contains an entry for this variant (Variation ID: 1381496). 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). 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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