ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.4828G>T (p.Ala1610Ser)

gnomAD frequency: 0.00011  dbSNP: rs369467132
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000233482 SCV000290278 benign Adams-Oliver syndrome 5 2022-10-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002327142 SCV002634029 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-04-25 criteria provided, single submitter clinical testing The p.A1610S variant (also known as c.4828G>T), located in coding exon 26 of the NOTCH1 gene, results from a G to T substitution at nucleotide position 4828. The alanine at codon 1610 is replaced by serine, an amino acid with similar 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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