ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1721G>A (p.Arg574Gln) (rs397515922)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723941 SCV000226724 uncertain significance not provided 2014-05-26 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000208484 SCV000264028 uncertain significance Primary dilated cardiomyopathy 2015-01-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV000247360 SCV000320550 uncertain significance Cardiovascular phenotype 2018-05-29 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Illumina Clinical Services Laboratory,Illumina RCV000321873 SCV000372346 benign Left ventricular noncompaction 10 2018-01-13 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 Clinical Services Laboratory,Illumina RCV001094061 SCV000372348 uncertain significance Familial hypertrophic cardiomyopathy 4 2018-01-13 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.
Invitae RCV000267890 SCV000546490 likely benign Hypertrophic cardiomyopathy 2019-12-20 criteria provided, single submitter clinical testing
GeneDx RCV000035429 SCV000616974 uncertain significance not specified 2017-03-02 criteria provided, single submitter clinical testing The R574Q variant of uncertain significance in the MYBPC3 gene has not been published as pathogenic or been reported as benign to our knowledge. It was not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Although the R574Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties, this substitution occurs at a position where amino acids with similar properties to Arginine are tolerated across species. Finally, two of three in silico prediction algorithms predict this variant likely does not alter the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000624304 SCV000740354 uncertain significance Primary familial hypertrophic cardiomyopathy 2016-05-18 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV001170954 SCV001333609 uncertain significance Cardiomyopathy 2019-03-18 criteria provided, single submitter clinical testing
Color RCV001170954 SCV001347632 likely benign Cardiomyopathy 2020-02-13 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000035429 SCV000059077 uncertain significance not specified 2009-02-26 no assertion criteria provided clinical testing

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