ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.2002C>G (p.Pro668Ala)

gnomAD frequency: 0.00004  dbSNP: rs780810308
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001313537 SCV001504036 benign Adams-Oliver syndrome 5 2023-10-30 criteria provided, single submitter clinical testing
MGZ Medical Genetics Center RCV002290688 SCV002579534 uncertain significance Aortic valve disease 1 2021-09-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV004034288 SCV005027232 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2024-02-12 criteria provided, single submitter clinical testing The p.P668A variant (also known as c.2002C>G), located in coding exon 12 of the NOTCH1 gene, results from a C to G substitution at nucleotide position 2002. The proline at codon 668 is replaced by alanine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this alteration remains unclear.

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