ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.3102C>T (p.Ala1034=) (rs200663253)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000243240 SCV000318809 likely benign Cardiovascular phenotype 2013-06-28 criteria provided, single submitter clinical testing
Color RCV000777778 SCV000913751 benign Cardiomyopathy 2018-05-21 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000296162 SCV000372294 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000334330 SCV000372295 uncertain significance Left ventricular noncompaction cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000393214 SCV000372296 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000035560 SCV000919806 benign not specified 2018-09-17 criteria provided, single submitter clinical testing Variant summary: MYBPC3 c.3102C>T alters a non-conserved nucleotide resulting in a synonymous change. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.00067 in 273868 control chromosomes, predominantly at a frequency of 0.0033 within the Latino subpopulation in the gnomAD database. The observed variant frequency within Latino control individuals in the gnomAD database is approximately 3-folds higher than the estimated maximal expected allele frequency for a pathogenic variant in MYBPC3 causing Cardiomyopathy phenotype (0.001), strongly suggesting that the variant is a benign polymorphism found primarily in populations of Latino origin. To our knowledge, no occurrence of c.3102C>T in individuals affected with Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. Three ClinVar submissions from clinical diagnostic laboratories (evaluation after 2014) cites the variant twice as likely benign/bening and once as uncertain significance.Based on the evidence outlined above, the variant was classified as benign.
Invitae RCV000296162 SCV000558161 benign Hypertrophic cardiomyopathy 2017-12-19 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035560 SCV000059210 likely benign not specified 2015-11-19 criteria provided, single submitter clinical testing p.Ala1034Ala in exon 29 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 0.2% (26/11544) of Latino chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs200663253).

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