Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003748285 | SCV004535350 | uncertain significance | Hypertrophic cardiomyopathy | 2023-06-23 | criteria provided, single submitter | clinical testing | Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. ClinVar contains an entry for this variant (Variation ID: 637005). Disruption of this splice site has been observed in individual(s) with hypertrophic cardiomyopathy who also carried a pathogenic MYH7 variant (PMID: 30924982). This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change affects an acceptor splice site in intron 11 of the MYH7 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), however the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in MYH7 cause disease. |
Institute of Human Genetics, |
RCV000788991 | SCV000928300 | likely pathogenic | Left ventricular noncompaction | no assertion criteria provided | clinical testing |