ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.7128G>T (p.Gln2376His)

gnomAD frequency: 0.00001  dbSNP: rs369935287
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001658831 SCV001873982 uncertain significance not provided 2023-05-03 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign in association with NOTCH1-related cardiac phenotype to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 31495132)
Labcorp Genetics (formerly Invitae), Labcorp RCV001882756 SCV002159975 likely benign Adams-Oliver syndrome 5 2024-02-16 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001882756 SCV002553260 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271283 SCV002553261 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV004641674 SCV005142205 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2024-05-11 criteria provided, single submitter clinical testing The p.Q2376H variant (also known as c.7128G>T), located in coding exon 34 of the NOTCH1 gene, results from a G to T substitution at nucleotide position 7128. The glutamine at codon 2376 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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