ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.2954C>T (p.Pro985Leu)

dbSNP: rs1335400945
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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 RCV004359827 SCV004093025 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-08-31 criteria provided, single submitter clinical testing The c.2954C>T (p.P985L) 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 2954, causing the proline (P) at amino acid position 985 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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