ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.6781G>T (p.Gly2261Cys)

gnomAD frequency: 0.00001  dbSNP: rs768817065
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001368863 SCV001565277 likely benign Adams-Oliver syndrome 5 2024-04-15 criteria provided, single submitter clinical testing
GeneDx RCV001799764 SCV002044252 uncertain significance not provided 2021-06-23 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 1059556; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 27535533)
Genome-Nilou Lab RCV001368863 SCV002553278 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271233 SCV002553279 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002368192 SCV002661777 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-01-10 criteria provided, single submitter clinical testing The p.G2261C variant (also known as c.6781G>T), located in coding exon 34 of the NOTCH1 gene, results from a G to T substitution at nucleotide position 6781. The glycine at codon 2261 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is conserved. 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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