ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.4373C>T (p.Ala1458Val)

gnomAD frequency: 0.00008  dbSNP: rs374352922
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001368999 SCV001565425 benign Adams-Oliver syndrome 5 2024-01-10 criteria provided, single submitter clinical testing
GeneDx RCV001751728 SCV001995513 uncertain significance not provided 2024-01-25 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV001368999 SCV002553419 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271234 SCV002553420 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493881 SCV002784731 uncertain significance Aortic valve disease 1; Adams-Oliver syndrome 5 2021-10-29 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001751728 SCV003815993 uncertain significance not provided 2019-07-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV003169892 SCV003861087 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-01-17 criteria provided, single submitter clinical testing The p.A1458V variant (also known as c.4373C>T), located in coding exon 25 of the NOTCH1 gene, results from a C to T substitution at nucleotide position 4373. The alanine at codon 1458 is replaced by valine, an amino acid with similar properties. This amino acid position is not 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.

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