ClinVar Miner

Submissions for variant NM_014991.6(WDFY3):c.9449C>A (p.Thr3150Asn)

dbSNP: rs2148828032
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV001728081 SCV001976501 uncertain significance Microcephaly 18, primary, autosomal dominant 2021-10-06 criteria provided, single submitter clinical testing The variant c.9449C>A (p.(Thr3150Asn)) in exon 62 of the WDFY3-gene is not found in the gnomAD database, it affects a highly conserved nucleotide, a highly conserved amino acid within a protein domain and there is a small physicochemical difference between Thr and Asn. This variant has a pathogenic computational verdict based on 8 pathogenic predictions from DANN, EIGEN, FATHMM-MKL, LIST-S2, M-CAP, MutationTaster, PrimateAI and SIFT vs 4 benign predictions from BayesDel_addAF, DEOGEN2, MVP and MutationAssessor. ACMG criteria used for classification: PM2, PP2, PP3.

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