Submissions for variant NM_001101.5(ACTB):c.942G>A (p.Gln314=)

gnomAD frequency: 0.03418  dbSNP: rs11546939

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000116225	SCV000516418	benign	not specified	2015-11-05	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000541380	SCV000641804	benign	Baraitser-Winter syndrome 1	2025-02-03	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000116225	SCV001365935	benign	not specified	2018-12-27	criteria provided, single submitter	clinical testing	p.Gln314Gln in exon 5 of ACTB: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 4.36% (454/10402) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs11546939).
Athena Diagnostics	RCV000116225	SCV001880128	benign	not specified	2021-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000541380	SCV002524386	benign	Baraitser-Winter syndrome 1	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002253210	SCV002524387	benign	Developmental malformations-deafness-dystonia syndrome	2021-12-05	criteria provided, single submitter	clinical testing
Molecular Genetics, Royal Melbourne Hospital	RCV000541380	SCV004812420	benign	Baraitser-Winter syndrome 1	2023-05-04	criteria provided, single submitter	clinical testing	African/African American population allele frequency is 3.989% (rs11546939,1081/24968 alleles, 22 homozygotes in gnomAD v2.1). Based on the classification scheme RMH Modified ACMG/AMP Guidelines v1.2.1, this variant is classified as BENIGN. Following criteria are met: BA1
Genetic Services Laboratory, University of Chicago	RCV000116225	SCV000150137	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000116225	SCV001740303	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000116225	SCV001955401	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000116225	SCV001969987	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000116225	SCV002035392	benign	not specified		no assertion criteria provided	clinical testing