ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.3160C>A (p.Pro1054Thr)

gnomAD frequency: 0.00001  dbSNP: rs1018501056
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001732462 SCV001982556 uncertain significance not provided 2021-09-20 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function
Ambry Genetics RCV002324172 SCV002610103 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-02-17 criteria provided, single submitter clinical testing The c.3160C>A (p.P1054T) alteration is located in exon 19 (coding exon 19) of the NOTCH1 gene. This alteration results from a C to A substitution at nucleotide position 3160, causing the proline (P) at amino acid position 1054 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Invitae RCV003586305 SCV004269296 benign Adams-Oliver syndrome 5 2023-01-16 criteria provided, single submitter clinical testing

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