Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mayo Clinic Laboratories, |
RCV001507788 | SCV001713563 | likely pathogenic | not provided | 2021-02-11 | criteria provided, single submitter | clinical testing | PVS1_Strong, PM2_supporting |
Ambry Genetics | RCV003298910 | SCV004001261 | uncertain significance | Cardiovascular phenotype | 2023-05-08 | criteria provided, single submitter | clinical testing | The c.1927+1G>A intronic variant results from a G to A substitution one nucleotide after coding exon 20 of the MYBPC3 gene. Alterations that disrupt the canonical splice site are expected to result in aberrant splicing. In silico splice site analysis predicts that this alteration will weaken the native splice donor site. The resulting transcript is predicted to be in-frame and is not expected to trigger nonsense-mediated mRNAdecay; however, direct evidence is unavailable. The exact functional effect of the altered amino acid sequence is unknown. This nucleotide position is highly conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |