ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.2323C>G (p.Leu775Val)

gnomAD frequency: 0.00001  dbSNP: rs1230128244
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000730137 SCV000857852 uncertain significance not provided 2017-10-30 criteria provided, single submitter clinical testing
Invitae RCV001855630 SCV002193384 uncertain significance Hajdu-Cheney syndrome 2022-08-15 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt NOTCH2 protein function. ClinVar contains an entry for this variant (Variation ID: 594772). 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). This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 775 of the NOTCH2 protein (p.Leu775Val).

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