ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.440T>C (p.Val147Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 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'.

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