ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.4898G>A (p.Arg1633His)

gnomAD frequency: 0.00064  dbSNP: rs375018022
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000869038 SCV000581939 likely benign not provided 2020-12-28 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 18593716)
Ambry Genetics RCV002314848 SCV000738412 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-09-06 criteria provided, single submitter clinical testing The p.R1633H variant (also known as c.4898G>A), located in coding exon 26 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 4898. The arginine at codon 1633 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is highly conserved in available 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 variant remains unclear.
Invitae RCV002063856 SCV002457692 likely benign Adams-Oliver syndrome 5 2024-01-25 criteria provided, single submitter clinical testing
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000678731 SCV000804903 uncertain significance Shone complex 2016-03-18 no assertion criteria provided clinical testing

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