ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.7072A>G (p.Met2358Val)

dbSNP: rs763117840
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000728942 SCV000856569 uncertain significance not provided 2017-08-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002477687 SCV002778132 uncertain significance Alagille syndrome due to a NOTCH2 point mutation; Hajdu-Cheney syndrome 2022-02-07 criteria provided, single submitter clinical testing
Invitae RCV003633536 SCV004550185 uncertain significance Hajdu-Cheney syndrome 2023-02-18 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 593802). This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 2358 of the NOTCH2 protein (p.Met2358Val). This variant is present in population databases (rs763117840, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with NOTCH2-related conditions.

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