ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.6295G>A (p.Asp2099Asn)

gnomAD frequency: 0.00001  dbSNP: rs766745955
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002014590 SCV002233398 benign Adams-Oliver syndrome 5 2022-07-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV004043935 SCV004990180 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2024-01-04 criteria provided, single submitter clinical testing The c.6295G>A (p.D2099N) alteration is located in exon 34 (coding exon 34) of the NOTCH1 gene. This alteration results from a G to A substitution at nucleotide position 6295, causing the aspartic acid (D) at amino acid position 2099 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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