ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.4313G>A (p.Arg1438His)

gnomAD frequency: 0.00008  dbSNP: rs61751541
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000461782 SCV000548935 likely benign Adams-Oliver syndrome 5 2024-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002313170 SCV000739409 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2016-05-03 criteria provided, single submitter clinical testing The p.R1438H variant (also known as c.4313G>A), located in coding exon 25 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 4313. The arginine at codon 1438 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is poorly conserved in available vertebrate species, and histidine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV000766059 SCV000897515 uncertain significance Aortic valve disease 1; Adams-Oliver syndrome 5 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV001565647 SCV001789032 uncertain significance not provided 2023-01-10 criteria provided, single submitter clinical testing Has not been previously published in association with connective tissue disorders to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 26353884)
Mayo Clinic Laboratories, Mayo Clinic RCV001565647 SCV004225187 uncertain significance not provided 2023-01-05 criteria provided, single submitter clinical testing BP4

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