ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.4852C>T (p.Pro1618Ser)

gnomAD frequency: 0.00001  dbSNP: rs1406481520
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002286001 SCV002575793 uncertain significance not provided 2022-03-23 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV003308098 SCV003999739 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-05-28 criteria provided, single submitter clinical testing The p.P1618S variant (also known as c.4852C>T), located in coding exon 26 of the NOTCH1 gene, results from a C to T substitution at nucleotide position 4852. The proline at codon 1618 is replaced by serine, an amino acid with similar properties. This amino acid position is conserved. 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.

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