ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.3726+6C>T (rs377745688)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000035863 SCV000059514 uncertain significance not specified 2014-09-19 criteria provided, single submitter clinical testing The 3726+6C>T variant in MYH7 has been identified by our laboratory in 2 Caucasi an adults with HCM, one of whom carries a pathogenic variant in the MYBPC3 gene. This variant has also been identified in 4/8600 of European American chromosome s by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSN P rs377745688). This variant is located in the 5' splice region. Computational t ools do not suggest an impact to splicing. However, this information is not pred ictive enough to rule out pathogenicity. In summary, the clinical significance o f the 3726+6C>T variant is uncertain.
GeneDx RCV000035863 SCV000208429 uncertain significance not specified 2017-06-20 criteria provided, single submitter clinical testing The variant is found in HCM panel(s). A variant of uncertain significance has been identified in the MYH7 gene. The c.3726+6 C>T variant has been reported previously as a variant of uncertain significance in an individual with apical HCM; however, additional clinical information was not provided and information regarding parental testing was not available (Gruner et al., 2011). The c.3726+6 C>T variant is observed in 12/66732 (0.2%) alleles from individuals of European background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). In-silico splice prediction models are inconsistent in their predictions as to whether or not c.3726+6 C>T may create a cryptic splice donor site which may supplant the natural donor site and lead to abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV000549671 SCV000623703 likely benign Hypertrophic cardiomyopathy 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001110078 SCV001267468 uncertain significance Myosin storage myopathy 2018-06-19 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV001110079 SCV001267469 uncertain significance Familial hypertrophic cardiomyopathy 1 2018-06-19 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV001114108 SCV001271943 benign Myopathy, distal, 1 2018-06-19 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Color RCV001182249 SCV001347637 likely benign Cardiomyopathy 2019-01-11 criteria provided, single submitter clinical testing

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.