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

gnomAD frequency: 0.00001  dbSNP: rs868064163

Total submissions: 4

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 Center for Human Genetics 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
OMIM	RCV001531585	SCV004801761	uncertain significance	not provided	2024-03-21	no assertion criteria provided	literature only