ClinVar Miner

Submissions for variant NM_001101.5(ACTB):c.193C>T (p.Leu65Phe)

dbSNP: rs281875332
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002293418 SCV002586691 pathogenic not provided 2024-07-10 criteria provided, single submitter clinical testing Identified in multiple patients with features of ACTB-related Baraitser-Winter syndrome in published literature and tested at GeneDx, reported de novo with or without confirmed parentage when parental samples were available (PMID: 38444904, 25052316); Missense variants in this gene are a common cause of disease and they are underrepresented in the general population; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 22366783, 38444904, 25052316)
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000133564 SCV004565366 likely pathogenic Baraitser-Winter syndrome 1 2024-02-12 criteria provided, single submitter clinical testing A heterozygous missense variant in exon 3 of the ACTB gene that results in the amino acid substitution of Phenylalanine for Leucine at codon 65 (p.Leu65Phe) was detected. The observed variant and a different missense in the same codon (p.Leu65Val) has previously been reported in patients affected with Baraitser-Winter syndrome [PMID: 25052316, ClinVar: VCV000127161.4]. This variant has not been reported in the 1000 genomes, gnomAD (v3.1), gnomdAD (v2.1) and topmed databases. The in silico prediction of the variant are probably damaging by PolyPhen-2 (HumDiv), SIFT and LRT. The reference codon is conserved across species. In summary, the variant meets our criteria to be classified as a likely pathogenic.
Department of Genetics, Robert DEBRE University Hospital RCV000133564 SCV000148634 pathogenic Baraitser-Winter syndrome 1 2014-04-15 no assertion criteria provided clinical testing
Diagnostic Laboratory, Strasbourg University Hospital RCV001249485 SCV001423475 pathogenic Intellectual disability 2018-12-01 no assertion criteria provided clinical testing

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