ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.4820G>A (p.Arg1607His)

gnomAD frequency: 0.00005  dbSNP: rs372710038
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003522927 SCV004286109 uncertain significance Hajdu-Cheney syndrome 2023-06-14 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 1607 of the NOTCH2 protein (p.Arg1607His). This variant is present in population databases (rs372710038, gnomAD 0.01%). 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 NOTCH2 protein function. ClinVar contains an entry for this variant (Variation ID: 134976). This variant has not been reported in the literature in individuals affected with NOTCH2-related conditions.
ITMI RCV000121726 SCV000085924 not provided not specified 2013-09-19 no assertion provided reference population

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