ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1566G>A (p.Ala522=)

gnomAD frequency: 0.00016  dbSNP: rs376041792
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Total submissions: 14
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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 RCV000035412 SCV000059060 likely benign not specified 2015-12-04 criteria provided, single submitter clinical testing p.Ala522Ala in exon 17 of MYBPC3: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 23/66374 Europea n chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstit ute.org; dbSNP rs376041792).
Invitae RCV001081419 SCV000558144 likely benign Hypertrophic cardiomyopathy 2024-01-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000488261 SCV000574881 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing MYBPC3: BP4, BP7
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625309 SCV000744849 likely benign Hypertrophic cardiomyopathy 4 2017-06-28 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000771847 SCV000904561 likely benign Cardiomyopathy 2018-10-16 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001103226 SCV001259954 benign Left ventricular noncompaction 10 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina RCV000625309 SCV001259955 uncertain significance Hypertrophic cardiomyopathy 4 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000771847 SCV001333615 likely benign Cardiomyopathy 2019-02-12 criteria provided, single submitter clinical testing
GeneDx RCV000488261 SCV001848421 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002399368 SCV002709942 likely benign Cardiovascular phenotype 2018-03-07 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000035412 SCV004038000 likely benign not specified 2023-08-19 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001081419 SCV004834602 likely benign Hypertrophic cardiomyopathy 2023-12-14 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000035412 SCV001918336 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000488261 SCV001959987 likely benign not provided no assertion criteria provided clinical testing

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