ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.3262G>A (p.Gly1088Ser)

dbSNP: rs531420022
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001429078 SCV001631789 likely benign Adams-Oliver syndrome 5 2024-09-04 criteria provided, single submitter clinical testing
GeneDx RCV001569885 SCV001794051 uncertain significance not provided 2024-08-18 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Identified in a patient with ischemic stroke in published literature (PMID: 36973604); This variant is associated with the following publications: (PMID: 36973604)
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001569885 SCV004564874 likely benign not provided 2023-11-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV004038272 SCV005027207 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2024-02-06 criteria provided, single submitter clinical testing The p.G1088S variant (also known as c.3262G>A), located in coding exon 20 of the NOTCH1 gene, results from a G to A substitution at nucleotide position 3262. The glycine at codon 1088 is replaced by serine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this alteration remains unclear.

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