ClinVar Miner

Submissions for variant NM_003803.3(MYOM1):c.2384+4A>T (rs73373171)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000215328 SCV000269353 benign not specified 2015-06-10 criteria provided, single submitter clinical testing c.2384+4A>T in intron 16 of MYOM1: This variant is not expected to have clinical significance because it has been identified in 1.0% (98/9464) of African chromo somes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs73373171).
Invitae RCV000462020 SCV000561221 benign not provided 2019-02-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621548 SCV000739897 likely benign Cardiovascular phenotype 2013-04-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Does not segregate with disease in family study (genes with incomplete penetrance),Subpopulation frequency in support of benign classification
Stanford Center for Inherited Cardiovascular Disease,Stanford University RCV000215328 SCV000280392 uncertain significance not specified 2013-01-07 no assertion criteria provided clinical testing Note this variant was found in clinical genetic testing performed by one or more labs who may also submit to ClinVar. Thus any internal case data may overlap with the internal case data of other labs. The interpretation reviewed below is that of the Stanford Center for Inherited Cardiovascular Disease. Splice site variant (c.2384+4 A>T) in the MYOM1 gene Based on the information reviewed below, we categorize it as a VUS, probably benign due to its frequency in African Americans in population datasets. (Our patient is African American.) The c.2384+4 A>T variant is located in intron 16 of the MYOM1 gene, four nucleotides after exon 16. This variant was previously reported in the SNPDatabase as rs73373171. Based on data from the NHLBI Exome Sequencing Project (ESP), the T-allele has an overall frequency of approximately 0.23% (23/9,826), having been observed in 0.73% (23/3,154) of African American alleles, and in 0.0% (0/6,672) of European American alleles. Based on data from the 1000 Genomes Project, the A-allele has an overall frequency of approximately 0.23% (5/2,188). The highest observed frequency was 3 of 194 (1.55%) Luhya West African chromosomes studied. Based on nucleotide sequence alignment in 37 available vertebrate species, this nucleotide position is conserved in 35 of them. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to abolish the native donor splice site; however, direct evidence of the effect on splicing is unavailable.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.