Total submissions: 13
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular 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.br oadinstitute.org; dbSNP rs200663253). |
Ambry Genetics | RCV000243240 | SCV000318809 | likely benign | Cardiovascular phenotype | 2020-03-19 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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. |
Illumina Laboratory Services, |
RCV001094055 | SCV000372294 | uncertain significance | 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. |
Illumina Laboratory Services, |
RCV000334330 | SCV000372295 | 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. |
Invitae | RCV000296162 | SCV000558161 | benign | Hypertrophic cardiomyopathy | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000777778 | SCV000913751 | benign | Cardiomyopathy | 2018-05-21 | criteria provided, single submitter | clinical testing | |
Women's Health and 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. |
CHEO Genetics Diagnostic Laboratory, |
RCV000777778 | SCV001333819 | likely benign | Cardiomyopathy | 2017-12-18 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001705648 | SCV001472986 | likely benign | not provided | 2023-06-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001705648 | SCV001940800 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001705648 | SCV002821622 | likely benign | not provided | 2022-10-01 | criteria provided, single submitter | clinical testing | MYBPC3: BP4, BP7 |
Genome Diagnostics Laboratory, |
RCV001705648 | SCV001930071 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001705648 | SCV001972620 | likely benign | not provided | no assertion criteria provided | clinical testing |