ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.632C>G (p.Thr211Ser)

gnomAD frequency: 0.00001  dbSNP: rs1401319182
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002315105 SCV000739462 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2017-01-04 criteria provided, single submitter clinical testing The p.T211S variant (also known as c.632C>G), located in coding exon 4 of the NOTCH1 gene, results from a C to G substitution at nucleotide position 632. The threonine at codon 211 is replaced by serine, an amino acid with similar properties. This amino acid position is well 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001219136 SCV001391057 benign Adams-Oliver syndrome 5 2023-10-18 criteria provided, single submitter clinical testing
GeneDx RCV002248818 SCV002520300 uncertain significance not provided 2022-05-11 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Genome-Nilou Lab RCV001219136 SCV002553994 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270901 SCV002553995 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
GenomeConnect - Invitae Patient Insights Network RCV003483690 SCV004228712 not provided Aortic valve disease 1; Adams-Oliver syndrome 5 no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 04-23-2020 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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