ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.6065A>G (p.Asn2022Ser)

gnomAD frequency: 0.00002  dbSNP: rs369621601
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003093417 SCV003471024 likely benign Adams-Oliver syndrome 5 2023-04-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV003161739 SCV003861514 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-12-06 criteria provided, single submitter clinical testing The p.N2022S variant (also known as c.6065A>G), located in coding exon 32 of the NOTCH1 gene, results from an A to G substitution at nucleotide position 6065. The asparagine at codon 2022 is replaced by serine, an amino acid with highly similar properties. This amino acid position is conserved. 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.
GeneDx RCV005059151 SCV005690246 uncertain significance not provided 2024-08-09 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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