ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.5105G>A (p.Arg1702Gln)

gnomAD frequency: 0.00001  dbSNP: rs999822357
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano RCV001270188 SCV001364319 likely pathogenic Premature ovarian failure 2020-03-02 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001863079 SCV002261626 uncertain significance Hajdu-Cheney syndrome 2022-08-16 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 expected to disrupt NOTCH2 protein function. ClinVar contains an entry for this variant (Variation ID: 929740). This variant has not been reported in the literature in individuals affected with NOTCH2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 1702 of the NOTCH2 protein (p.Arg1702Gln).

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