ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.6409C>T (p.Pro2137Ser)

gnomAD frequency: 0.00046  dbSNP: rs372698234
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000468297 SCV000723739 likely benign not provided 2021-03-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002312814 SCV000739360 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2017-07-30 criteria provided, single submitter clinical testing The p.P2137S variant (also known as c.6409C>T), located in coding exon 34 of the NOTCH1 gene, results from a C to T substitution at nucleotide position 6409. The proline at codon 2137 is replaced by serine, an amino acid with similar properties. This variant was identified in a cohort of 681 ancestrally diverse, healthy subjects (Bodian DL et al. PLoS ONE, 2014 Apr;9:e94554). This amino acid position is highly 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.
Invitae RCV001441642 SCV001644573 likely benign Adams-Oliver syndrome 5 2022-07-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003975083 SCV004789622 likely benign NOTCH1-related condition 2022-06-22 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).
ITMI RCV000121696 SCV000085894 not provided not specified 2013-09-19 no assertion provided reference population

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