ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.3970G>A (p.Val1324Met)

gnomAD frequency: 0.00048  dbSNP: rs149057410
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002311228 SCV000320648 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2019-07-15 criteria provided, single submitter clinical testing The p.V1324M variant (also known as c.3970G>A), located in coding exon 24 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 3970. The valine at codon 1324 is replaced by methionine, an amino acid with highly similar properties. 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 variant remains unclear.
Invitae RCV000863006 SCV001003594 likely benign Adams-Oliver syndrome 5 2023-12-18 criteria provided, single submitter clinical testing
GeneDx RCV001541098 SCV001759054 likely benign not provided 2019-06-04 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001541098 SCV003815980 uncertain significance not provided 2020-03-16 criteria provided, single submitter clinical testing

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