Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002315090 | SCV000739430 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2023-07-25 | criteria provided, single submitter | clinical testing | The c.2917G>A (p.A973T) alteration is located in exon 18 (coding exon 18) of the NOTCH1 gene. This alteration results from a G to A substitution at nucleotide position 2917, causing the alanine (A) at amino acid position 973 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Invitae | RCV000703448 | SCV000832347 | benign | Adams-Oliver syndrome 5 | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000703448 | SCV002553521 | uncertain significance | Adams-Oliver syndrome 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270884 | SCV002553522 | uncertain significance | Aortic valve disease 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003236824 | SCV003935444 | uncertain significance | not provided | 2022-12-23 | 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 (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function |
ARUP Laboratories, |
RCV003236824 | SCV004563456 | uncertain significance | not provided | 2023-10-03 | criteria provided, single submitter | clinical testing | The NOTCH1 c.2917G>A; p.Ala973Thr variant (rs200699541), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 520045). This variant is found in the general population with an overall allele frequency of 0.002% (5/248,668 alleles) in the Genome Aggregation Database. Computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.189). Due to limited information, the clinical significance of this variant is uncertain at this time. |