ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.6980G>A (p.Arg2327Gln)

gnomAD frequency: 0.00088  dbSNP: rs202065858
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000475178 SCV000559868 likely benign Adams-Oliver syndrome 5 2024-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV001170917 SCV000738413 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2016-11-09 criteria provided, single submitter clinical testing The p.R2327Q variant (also known as c.6980G>A), located in coding exon 34 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 6980. The arginine at codon 2327 is replaced by glutamine, 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170917 SCV001333565 benign Familial thoracic aortic aneurysm and aortic dissection 2017-11-27 criteria provided, single submitter clinical testing
GeneDx RCV001567097 SCV001790726 likely benign not provided 2020-12-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003925202 SCV004753495 likely benign NOTCH1-related condition 2023-07-27 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000121706 SCV004803418 likely benign not specified 2024-01-15 criteria provided, single submitter clinical testing
ITMI RCV000121706 SCV000085904 not provided not specified 2013-09-19 no assertion provided reference population
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001567097 SCV001931670 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001567097 SCV001973927 likely benign not provided no assertion criteria provided clinical testing

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