ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.2320G>T (p.Ala774Ser)

dbSNP: rs1268731319
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Total submissions: 1
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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.

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