ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.3694G>A (p.Val1232Met)

gnomAD frequency: 0.00001  dbSNP: rs750169914
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000540757 SCV000659428 benign Adams-Oliver syndrome 5 2024-11-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002315047 SCV000739403 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2016-02-23 criteria provided, single submitter clinical testing The p.V1232M variant (also known as c.3694G>A), located in coding exon 23 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 3694. The valine at codon 1232 is replaced by methionine, an amino acid with highly similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6168 samples (12336 alleles) with coverage at this position. This amino acid position is poorly 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.
Genome-Nilou Lab RCV000540757 SCV002553476 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270692 SCV002553477 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579924 SCV001809058 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001579924 SCV001927627 likely benign not provided no assertion criteria provided clinical testing

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