ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.2192G>A (p.Arg731Gln)

gnomAD frequency: 0.00007  dbSNP: rs587778558
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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 RCV003105792 SCV003782193 benign Adams-Oliver syndrome 5 2024-11-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV004019689 SCV004990166 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-03-11 criteria provided, single submitter clinical testing The c.2192G>A (p.R731Q) alteration is located in exon 13 (coding exon 13) of the NOTCH1 gene. This alteration results from a G to A substitution at nucleotide position 2192, causing the arginine (R) at amino acid position 731 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
ITMI RCV000121663 SCV000085861 not provided not specified 2013-09-19 no assertion provided reference population

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