ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.3017C>T (p.Thr1006Ile)

gnomAD frequency: 0.00004  dbSNP: rs367860186
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001215796 SCV001387558 likely benign Adams-Oliver syndrome 5 2022-12-06 criteria provided, single submitter clinical testing
GeneDx RCV003148947 SCV003837203 uncertain significance not provided 2022-09-01 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 RCV003294037 SCV003999755 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-04-01 criteria provided, single submitter clinical testing The p.T1006I variant (also known as c.3017C>T), located in coding exon 19 of the NOTCH1 gene, results from a C to T substitution at nucleotide position 3017. The threonine at codon 1006 is replaced by isoleucine, 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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