ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.3980A>G (p.Asn1327Ser)

gnomAD frequency: 0.00004  dbSNP: rs751874720
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001359164 SCV001555026 benign Adams-Oliver syndrome 5 2023-11-24 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV002261354 SCV002541044 uncertain significance not provided 2021-11-17 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001359164 SCV002553454 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271227 SCV002553455 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003150425 SCV003837917 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-03-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV003150425 SCV005027182 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-11-15 criteria provided, single submitter clinical testing The p.N1327S variant (also known as c.3980A>G), located in coding exon 24 of the NOTCH1 gene, results from an A to G substitution at nucleotide position 3980. The asparagine at codon 1327 is replaced by serine, 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 alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004734143 SCV005349675 uncertain significance NOTCH1-related disorder 2024-03-29 no assertion criteria provided clinical testing The NOTCH1 c.3980A>G variant is predicted to result in the amino acid substitution p.Asn1327Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0068% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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