ClinVar Miner

Submissions for variant NM_004301.5(ACTL6A):c.1129C>T (p.Arg377Trp) (rs868064163)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000664185 SCV000747031 likely pathogenic Torticollis; Atrial septal defect; Inguinal hernia; Syncope; Coarse facial features; Broad thumb; Delayed speech and language development; Recurrent otitis media; Broad nasal tip; Umbilical hernia; Gastroesophageal reflux; Aplasia/Hypoplasia of the nails; Cleft anterior mitral valve leaflet 2017-06-11 criteria provided, single submitter research This variant was identified as de novo in an individual with syndromic intellectual disability. In the same study, two additional unrelated affected subjects were also identified to have rare variation in this gene. The phenotypes of all 3 cases were felt to overlap with that of Coffin Siris syndrome, caused by mutations in genes associated with the BAF complex. ACTL6A encodes a BAF complex protein.
CeGaT Praxis fuer Humangenetik Tuebingen RCV001531585 SCV001746786 pathogenic not provided 2021-04-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV001533037 SCV001748856 uncertain significance ACTL6A-related BAFopathy 2021-06-10 criteria provided, single submitter clinical testing

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