ClinVar Miner

Submissions for variant NM_001614.5(ACTG1):c.493A>G (p.Ile165Val)

dbSNP: rs2031770749
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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 RCV001256638 SCV001431020 likely pathogenic Autosomal dominant nonsyndromic hearing loss 20 2021-08-26 criteria provided, single submitter clinical testing The variant c.493A>G (p.(Ile165Val)) in exon 4 of the ACTG1-gene is not found in known databases (ExAC or gnomAD), it affects a highly conserved nucleotide, a highly conserved amino acid and there is a small physicochemical difference between Ile and Val. This variant is located within the protein domain "Actin-like" (InterPro: IPR004000) and has a pathogenic computational verdict based on 9 pathogenic predictions from BayesDel_addAF, DANN, DEOGEN2, FATHMM-MKL, M-CAP, MutationTaster, SIFT, PolyPhen-2 and REVEL vs 4 benign predictions from EIGEN, MVP, MutationAssessor and PrimateAI. It was found to be de novo in our patient, who had congenital bilateral hearing loss. ACMG criteria used for classification: PM2, PM6, PP3, PP2.

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