ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.7115G>A (p.Arg2372Gln)

gnomAD frequency: 0.00003  dbSNP: rs373119531
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000529611 SCV000659490 benign Adams-Oliver syndrome 5 2024-01-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002315058 SCV000739507 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2017-11-04 criteria provided, single submitter clinical testing The p.R2372Q variant (also known as c.7115G>A), located in coding exon 34 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 7115. The arginine at codon 2372 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is well 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 alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV001575211 SCV000782577 uncertain significance not provided 2023-04-13 criteria provided, single submitter clinical testing PP2, PS4_moderate
GeneDx RCV001575211 SCV001802160 uncertain significance not provided 2022-08-10 criteria provided, single submitter clinical testing Reported as a paternally inherited variant in an individual with bicuspid aortic valve and a mildly dilated aortic root, but full phenotypic information on this individual's father was not available (Kaiwar et al., 2017). This individual was also reported to have Bosch-Boonstra-Schaaf optic atrophy syndrome, which was attributed to a de novo variant in the NR2F1 gene (Kaiwar et al., 2017).; Observed in a cohort of individuals with heritable thoracic aortic aneurysms or dissections (HTAD), however, case-level data were not described (Musfee et al., 2020); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 32748548, 28963436)
Genome-Nilou Lab RCV000529611 SCV002553262 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270710 SCV002553263 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing

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