ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.6869G>A (p.Ser2290Asn)

dbSNP: rs763183789
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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 RCV001877584 SCV002138885 uncertain significance Adams-Oliver syndrome 5 2021-08-11 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 NOTCH1 protein function. This variant has not been reported in the literature in individuals affected with NOTCH1-related conditions. This variant is present in population databases (rs763183789, ExAC 0.002%). This sequence change replaces serine with asparagine at codon 2290 of the NOTCH1 protein (p.Ser2290Asn). The serine residue is weakly conserved and there is a small physicochemical difference between serine and asparagine.

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