Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000460163 | SCV000546453 | pathogenic | Hypertrophic cardiomyopathy | 2016-09-26 | criteria provided, single submitter | clinical testing | This sequence change deletes 1 nucleotide from exon 33 of the MYBPC3 mRNA (c.3665delG), causing a frameshift at codon 1222. This creates a premature translational stop signal (p.Gly1222Glufs*15) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in MYBPC3 are known to be pathogenic ( PMID: 19574547)). For these reasons, this variant has been classified as Pathogenic. |