ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.7190C>G (p.Ala2397Gly)

gnomAD frequency: 0.00009  dbSNP: rs143197714
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001854667 SCV002142494 uncertain significance Hajdu-Cheney syndrome 2023-03-15 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with NOTCH2-related conditions. This variant is present in population databases (rs143197714, gnomAD 0.01%). This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 2397 of the NOTCH2 protein (p.Ala2397Gly). 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: 134984).
Fulgent Genetics, Fulgent Genetics RCV002505069 SCV002814265 uncertain significance Alagille syndrome due to a NOTCH2 point mutation; Hajdu-Cheney syndrome 2021-07-06 criteria provided, single submitter clinical testing
ITMI RCV000121734 SCV000085932 not provided not specified 2013-09-19 no assertion provided reference population

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