ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.4307C>T (p.Ala1436Val)

gnomAD frequency: 0.00007  dbSNP: rs371303106
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000549909 SCV000659443 benign Adams-Oliver syndrome 5 2023-12-23 criteria provided, single submitter clinical testing
GeneDx RCV001731787 SCV001983805 uncertain significance not provided 2021-10-06 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 477929; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 26582918)
Genome-Nilou Lab RCV000549909 SCV002553430 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270696 SCV002553431 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002330986 SCV002627561 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2020-07-22 criteria provided, single submitter clinical testing The p.A1436V variant (also known as c.4307C>T), located in coding exon 25 of the NOTCH1 gene, results from a C to T substitution at nucleotide position 4307. The alanine at codon 1436 is replaced by valine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species; however, valine is the reference amino acid in other 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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