ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.6547A>G (p.Met2183Val)

gnomAD frequency: 0.00003  dbSNP: rs748538625
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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) RCV000730891 SCV000858658 uncertain significance not provided 2017-12-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001855751 SCV002181433 uncertain significance Hajdu-Cheney syndrome 2023-05-13 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 NOTCH2 protein function. ClinVar contains an entry for this variant (Variation ID: 595364). This variant has not been reported in the literature in individuals affected with NOTCH2-related conditions. This variant is present in population databases (rs748538625, gnomAD 0.007%). This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 2183 of the NOTCH2 protein (p.Met2183Val).
Fulgent Genetics, Fulgent Genetics RCV002485886 SCV002778972 uncertain significance Alagille syndrome due to a NOTCH2 point mutation; Hajdu-Cheney syndrome 2022-01-06 criteria provided, single submitter clinical testing

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