ClinVar Miner

Submissions for variant NM_001614.5(ACTG1):c.1004G>A (p.Arg335His)

dbSNP: rs1555666392
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622274 SCV000740862 pathogenic Inborn genetic diseases 2015-04-14 criteria provided, single submitter clinical testing
3billion RCV001775138 SCV002012219 pathogenic Baraitser-winter syndrome 2 2021-10-02 criteria provided, single submitter clinical testing The variant has been previously reported as de novoo in a similarly affected individual (PMID: 27240540, PS2). The variant was observed as assumed (i.e. paternity and maternity not confirmed) de novoo (3billion dataset, PM6). It is not observed in the gnomAD v2.1.1 dataset (PM2). Missense changes are a common disease-causing mechanism (PP2).. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.844, 3Cnet: 0.988, PP3). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV002274075 SCV002558904 pathogenic Neurodevelopmental delay criteria provided, single submitter clinical testing
MGZ Medical Genetics Center RCV001775138 SCV002581592 likely pathogenic Baraitser-winter syndrome 2 2022-03-07 criteria provided, single submitter clinical testing

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