ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.3788G>A (p.Arg1263His)

gnomAD frequency: 0.00006  dbSNP: rs377594681
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000655268 SCV000777198 benign Adams-Oliver syndrome 5 2024-09-11 criteria provided, single submitter clinical testing
GeneDx RCV001546444 SCV001765964 uncertain significance not provided 2021-09-09 criteria provided, single submitter clinical testing Has not been previously published in association with NOTCH1-related disorders to our knowledge; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 544191; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 27855558)
Genome-Nilou Lab RCV000655268 SCV002553472 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270945 SCV002553473 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002343398 SCV002623297 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2024-04-02 criteria provided, single submitter clinical testing The p.R1263H variant (also known as c.3788G>A), located in coding exon 23 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 3788. The arginine at codon 1263 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002493062 SCV002793195 uncertain significance Aortic valve disease 1; Adams-Oliver syndrome 5 2021-10-29 criteria provided, single submitter clinical testing

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