ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.2917G>A (p.Ala973Thr)

gnomAD frequency: 0.00002  dbSNP: rs200699541
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Total submissions: 6
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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-Nilou Lab RCV000703448 SCV002553521 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270884 SCV002553522 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
GeneDx 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, Molecular Genetics and Genomics, 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.

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