Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center of Medical Genetics and Primary Health Care | RCV001005037 | SCV000987294 | uncertain significance | Hereditary cancer-predisposing syndrome | 2020-04-08 | no assertion criteria provided | research | PM2 Pathogenic Moderate: Variant not found in GnomAD genomes. PP3 Pathogenic Supporting: 8 pathogenic predictions from DANN, DEOGEN2, EIGEN, FATHMM-MKL, M-CAP, MutationAssessor, MutationTaster and SIFT vs 3 benign predictions from MVP, PrimateAI and REVEL. BP1 Benign Supporting: 92 out of 92 non-VUS missense variants in gene SLX4 are benign = 100.0% > threshold of 51.0%, and 248 out of 555 clinically reported variants in gene SLX4 are benign = 44.7% > threshold of 24.0%. In summary, the c.2320G>T (p.Ala774Ser) variant meets ACMG Guidelines 2015 criteria to be classified as Uncertain Significance. |