Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Agnes Ginges Centre for Molecular Cardiology, |
RCV000201901 | SCV000256646 | uncertain significance | Hypertrophic cardiomyopathy 1 | 2015-07-27 | criteria provided, single submitter | research | The MYBPC3 Pro1243Arg is a a novel variant. It is absent from both the 1000 genomes project (http://www.1000genomes.org/), as well as the Exome Aggregation Consortium dataset (http://exac.broadinstitute.org/). The variant was first identified in a deceased patient who had HCM. Following familial screening we identified this variant in our HCM proband as well as the proband's affected brother. Computational tools SIFT, MutationTaster, and PolyPhen-2 predict this variant to have a deleterious effect, but no prediction is called by PolyPhen-HCM. In summary, based on rarity in general populations, no other finding reports, and the limited familial data, we classify MYBPC3 Pro1243Arg as a variant "uncertain significance". |