ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.4927G>A (p.Ala1643Thr)

gnomAD frequency: 0.00007  dbSNP: rs566680728
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002315089 SCV000739428 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-08-02 criteria provided, single submitter clinical testing The c.4927G>A (p.A1643T) alteration is located in exon 26 (coding exon 26) of the NOTCH1 gene. This alteration results from a G to A substitution at nucleotide position 4927, causing the alanine (A) at amino acid position 1643 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV001548292 SCV001768175 likely benign not provided 2021-01-23 criteria provided, single submitter clinical testing
Invitae RCV002531841 SCV003447276 benign Adams-Oliver syndrome 5 2024-01-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001548292 SCV004162010 uncertain significance not provided 2023-02-01 criteria provided, single submitter clinical testing NOTCH1: PP2

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