ClinVar Miner

Submissions for variant NM_001103.4(ACTN2):c.1485G>A (p.Thr495=)

gnomAD frequency: 0.00005  dbSNP: rs201179281
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000155597 SCV000205305 likely benign not specified 2013-03-26 criteria provided, single submitter clinical testing Thr495Thr in exon 13 of ACTN2: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 1/196 Tuscan chromo somes by the 1000 Genomes Project (dbSNP rs201179281). Thr495Thr in exon 13 of ACTN2 (rs201179281; allele frequency = 1/196)
CeGaT Center for Human Genetics Tuebingen RCV000994294 SCV001147739 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing ACTN2: BP4, BP7
Labcorp Genetics (formerly Invitae), Labcorp RCV001444782 SCV001647793 likely benign Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardiomyopathy 2024-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002390354 SCV002701619 likely benign Cardiovascular phenotype 2019-09-24 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Clinical Genetics, Academic Medical Center RCV000155597 SCV001919451 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000994294 SCV001951488 likely benign not provided no assertion criteria provided clinical testing

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