ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.2576C>G (p.Thr859Arg)

dbSNP: rs199505287
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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 RCV004309293 SCV003973982 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-04-18 criteria provided, single submitter clinical testing The c.2576C>G (p.T859R) alteration is located in exon 16 (coding exon 16) of the NOTCH1 gene. This alteration results from a C to G substitution at nucleotide position 2576, causing the threonine (T) at amino acid position 859 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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