ClinVar Miner

Submissions for variant NM_001614.5(ACTG1):c.760C>T (p.Arg254Trp)

dbSNP: rs281875328
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000059729 SCV001819928 likely pathogenic not provided 2022-07-07 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Missense variants in this gene are often considered pathogenic (HGMD); This variant is associated with the following publications: (PMID: 22366783, 28496999, 27240540)
Institute of Human Genetics, University of Leipzig Medical Center RCV000022426 SCV001976431 likely pathogenic Baraitser-winter syndrome 2 2021-10-04 criteria provided, single submitter clinical testing This variant was identified as de novo (maternity and paternity confirmed).
Genetic Services Laboratory, University of Chicago RCV000059729 SCV002072040 likely pathogenic not provided 2017-08-09 criteria provided, single submitter clinical testing
Invitae RCV001851994 SCV002174610 pathogenic Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2 2022-02-05 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 29589). This missense change has been observed in individual(s) with Baraitser-Winter syndrome (PMID: 22366783, 27240540). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 254 of the ACTG1 protein (p.Arg254Trp). For these reasons, this variant has been classified as Pathogenic.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV003137540 SCV003807306 likely pathogenic Autosomal dominant nonsyndromic hearing loss 20 2022-11-12 criteria provided, single submitter clinical testing ACMG classification criteria: PS4 moderated, PM2 moderated, PM6 moderated, PP2 supporting, PP3 supporting
OMIM RCV000022426 SCV000043715 pathogenic Baraitser-winter syndrome 2 2012-02-26 no assertion criteria provided literature only
UniProtKB/Swiss-Prot RCV000059729 SCV000091299 not provided not provided no assertion provided not provided
University of Washington Center for Mendelian Genomics, University of Washington RCV001291054 SCV001479416 likely pathogenic Lissencephaly no assertion criteria provided research

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