ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1510C>T (p.Arg504Cys)

gnomAD frequency: 0.00006  dbSNP: rs752071569
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000559630 SCV000659375 benign Adams-Oliver syndrome 5 2023-08-24 criteria provided, single submitter clinical testing
GeneDx RCV001557872 SCV001779717 uncertain significance not provided 2021-12-23 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# 477877; Landrum et al., 2016)
Genome-Nilou Lab RCV000559630 SCV002553950 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270673 SCV002553951 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002395494 SCV002705012 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-11-02 criteria provided, single submitter clinical testing The p.R504C variant (also known as c.1510C>T), located in coding exon 9 of the NOTCH1 gene, results from a C to T substitution at nucleotide position 1510. The arginine at codon 504 is replaced by cysteine, an amino acid with highly dissimilar properties. 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 alteration remains unclear.

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