Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000035502 | SCV000059152 | likely pathogenic | Hypertrophic cardiomyopathy | 2012-02-21 | criteria provided, single submitter | clinical testing | The Glu843_Arg845del variant (MYBPC3) has not been reported in the literature no r previously identified in > 3300 probands (>2000 Caucasian) tested by our labor atory. This low frequency supports a pathogenic role. This variant is predicted to cause an in-frame deletion removing a lysine (Lys), methionine (M), and argin ine (Arg) from positions 843-845. These three amino acids are all highly conserv ed in mammals and evolutionarily distant species, and the loss of multiple conse rved amino acids is likely to have a severe effect on the protein. In summary, d ue to the rarity of the variant and the severity of the change, the Glu843_Arg84 5del variant is likely to be pathogenic. |