ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.6593C>T (p.Ser2198Leu)

gnomAD frequency: 0.00001  dbSNP: rs761562076
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000227496 SCV000290299 benign Adams-Oliver syndrome 5 2022-12-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002313955 SCV000739429 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2016-06-03 criteria provided, single submitter clinical testing The p.S2198L variant (also known as c.6593C>T), located in coding exon 34 of the NOTCH1 gene, results from a C to T substitution at nucleotide position 6593. The serine at codon 2198 is replaced by leucine, an amino acid with dissimilar properties. Based on data from ExAC, the T allele has an overall frequency of less than 0.01% (1/105105). This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6467 samples (12934 alleles) with coverage at this position. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV000227496 SCV002553291 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270058 SCV002553293 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing

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