Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Agnes Ginges Centre for Molecular Cardiology, |
RCV001089613 | SCV001245089 | uncertain significance | Hypertrophic cardiomyopathy | 2018-10-15 | criteria provided, single submitter | research | This TNNI3 Val147Ala variant has not previously been reported in the literature. This variant is rare and is absent from the Genome Aggregation Database. We have identified the variant in 1 HCM proband who has no family history of disease or SCD. Computational tools SIFT, MutationTaster, PolyPhen-HCM and PolyPhen-2 predict this variant to have a deleterious effect. In summary, based on rarity in the general population and in silico tools in support of a deleterious role we classify TNNI3 Val147Ala as a variant of 'uncertain significance'. |