ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.7387G>A (p.Ala2463Thr)

gnomAD frequency: 0.00021  dbSNP: rs537210445
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698048 SCV000728022 likely benign not provided 2020-11-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002315934 SCV000738410 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2015-10-04 criteria provided, single submitter clinical testing The p.A2463T variant (also known as c.7387G>A), located in coding exon 34 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 7387. The alanine at codon 2463 is replaced by threonine, an amino acid with 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; however this position was not covered in the ESP. 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.
Baylor Genetics RCV001335848 SCV001529091 uncertain significance Aortic valve disease 1 2018-05-30 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV001458130 SCV001661945 likely benign Adams-Oliver syndrome 5 2024-01-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003905642 SCV004727547 likely benign NOTCH1-related condition 2022-03-16 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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