ClinVar Miner

Submissions for variant NM_001103.3(ACTN2):c.441G>A (p.Ser147=) (rs150182164)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000123506 SCV000166844 benign not specified 2014-03-26 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.
Ambry Genetics RCV000243478 SCV000318411 likely benign Cardiovascular phenotype 2016-05-26 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV001084569 SCV000563578 benign Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardiomyopathy 2020-12-04 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000586835 SCV000697653 benign not provided 2016-04-15 criteria provided, single submitter clinical testing Variant summary: Variant Summary: The c.441G.A (p.Ser147=) in ACTN2 gene is a synonymous change that involves a non-conserved nucleotide with a prediction of being a "disease-causing" by mutation taster. 4/5 programs in Alamut predict that this variant does not affect normal splicing, however no functional studies supporting this notion were published at the time of evaluation. The variant is present in the control population dataset of ExAC at an overall allele frequency of 0.036% (44/121320 chrs tested), mainly in individuals of African descent (0.32%; 33/10388 chrs tested). The observed frequency exceeds the maximum expected allele frequency for a pathogenic ACTN2 variant (0.0025%), suggesting that it is a common polymorphism. The variant of interest has not, to our knowledge, been reported in affected individuals via published reports. Variant was identified in one individual undergoing genetic screening for CMYO panel, who tested positive for a known pathogenic variant in TTR. Lastly, the variant has been reported as Benign by a reputable database/clinical laboratory. Taken together, the variant was classified as Benign.
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769747 SCV000901169 likely benign Cardiomyopathy 2016-07-04 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000123506 SCV001365608 benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Ser147Ser in Exon 04 of ACTN2: 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 0.4% (14/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (; dbSNP rs150182164).

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