ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.5836C>T (p.Arg1946Cys)

gnomAD frequency: 0.00001  dbSNP: rs1440167765
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001204307 SCV001375507 uncertain significance Adams-Oliver syndrome 5 2022-09-22 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with NOTCH1-related conditions. 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 NOTCH1 protein function. ClinVar contains an entry for this variant (Variation ID: 935666). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 1946 of the NOTCH1 protein (p.Arg1946Cys).

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