ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.2863C>T (p.Arg955Cys)

gnomAD frequency: 0.00011  dbSNP: rs370797169
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000655243 SCV000777173 likely benign Adams-Oliver syndrome 5 2024-02-17 criteria provided, single submitter clinical testing
GeneDx RCV001771914 SCV002001506 uncertain significance not provided 2024-09-19 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Ambry Genetics RCV002440398 SCV002749825 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-11-27 criteria provided, single submitter clinical testing The c.2863C>T (p.R955C) alteration is located in exon 18 (coding exon 18) of the NOTCH1 gene. This alteration results from a C to T substitution at nucleotide position 2863, causing the arginine (R) at amino acid position 955 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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