ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.559G>C (p.Gly187Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV005383120 SCV006039567 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2025-01-25 criteria provided, single submitter clinical testing The c.559G>C (p.G187R) alteration is located in exon 4 (coding exon 4) of the NOTCH1 gene. This alteration results from a G to C substitution at nucleotide position 559, causing the glycine (G) at amino acid position 187 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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