ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.6160A>G (p.Met2054Val)

gnomAD frequency: 0.00001  dbSNP: rs774262327
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000802795 SCV000942639 uncertain significance Hajdu-Cheney syndrome 2018-11-16 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals with NOTCH2-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces methionine with valine at codon 2054 of the NOTCH2 protein (p.Met2054Val). The methionine residue is highly conserved and there is a small physicochemical difference between methionine and valine.

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