ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1058G>A (p.Arg353His)

gnomAD frequency: 0.00001  dbSNP: rs750215904
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002401423 SCV002710266 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2021-09-12 criteria provided, single submitter clinical testing The p.R353H variant (also known as c.1058G>A), located in coding exon 6 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 1058. The arginine at codon 353 is replaced by histidine, an amino acid with highly similar properties. This alteration has been reported in a family with lymphatic malformations (Michelini S et al. Mol Genet Genomic Med, 2021 01;9:e1529). 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003108086 SCV003781862 likely benign Adams-Oliver syndrome 5 2022-04-21 criteria provided, single submitter clinical testing

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