ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.2908A>G (p.Thr970Ala)

gnomAD frequency: 0.00005  dbSNP: rs201053795
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000707223 SCV000836311 benign Adams-Oliver syndrome 5 2023-05-01 criteria provided, single submitter clinical testing
GeneDx RCV001571863 SCV001796408 uncertain significance not provided 2023-09-07 criteria provided, single submitter clinical testing Has not been previously reported in association with connective tissue disorders or cardiovascular disorders to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 29113320)
Genome-Nilou Lab RCV000707223 SCV002553523 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270987 SCV002553524 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV003303197 SCV003999853 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-03-21 criteria provided, single submitter clinical testing The p.T970A variant (also known as c.2908A>G), located in coding exon 18 of the NOTCH1 gene, results from an A to G substitution at nucleotide position 2908. The threonine at codon 970 is replaced by alanine, an amino acid with similar properties. This amino acid position is well 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.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001571863 SCV001799644 uncertain significance not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001571863 SCV001932846 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001571863 SCV001964981 uncertain significance not provided no assertion criteria provided clinical testing

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