Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Agnes Ginges Centre for Molecular Cardiology, |
RCV000999572 | SCV001156270 | uncertain significance | Hypertrophic cardiomyopathy | 2018-10-12 | criteria provided, single submitter | research | The MYH7 Lys1022Glu variant is absent from the Genome Aggregation Database (http://gnomad.broadinstitute.org/). We have identified MYH7 Lys1022Glu in 1 HCM proband with a family history of disease however segregation was not possible (Ingles et al., 2017). Computational tools SIFT, MutationTaster, Polyphen-HCM and PolyPhen-2 predict the MYH7 Lys1022Glu variant to have a deleterious effect. In summary, based on rarity in general populations and our limited familial data, we classify MYH7 Lys1022Glu as a variant of "uncertain significance". |