ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.3388G>A (p.Gly1130Ser)

gnomAD frequency: 0.00001  dbSNP: rs782078365
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000731430 SCV000859247 uncertain significance not provided 2018-01-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505067 SCV002816710 uncertain significance Alagille syndrome due to a NOTCH2 point mutation; Hajdu-Cheney syndrome 2021-12-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002514648 SCV003481555 uncertain significance Hajdu-Cheney syndrome 2024-01-19 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1130 of the NOTCH2 protein (p.Gly1130Ser). This variant is present in population databases (rs782078365, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with NOTCH2-related conditions. ClinVar contains an entry for this variant (Variation ID: 134966). 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 with a negative predictive value of 80%. 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.
Revvity Omics, Revvity RCV000731430 SCV003815998 uncertain significance not provided 2021-05-05 criteria provided, single submitter clinical testing
ITMI RCV000121716 SCV000085914 not provided not specified 2013-09-19 no assertion provided reference population

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