ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.550-1G>A (rs1555863017)

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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 RCV000584759 SCV000692518 uncertain significance Hypertrophic cardiomyopathy 2018-11-27 criteria provided, single submitter research The TNNI3 550-1G>A is a novel splice acceptor variant. It is absent from the Genome Aggregation Database (http://gnomad.broadinstitute.org/). We identified the variant in a HCM proband with a family history of HCM. Splice predicition tools MaxEntScan and AdaBoost predict that this variant results in aberrant splicing, however loss of function has not been established as a mechanism of disease in TNNI3, therefore we classify this as a variant of "uncertain significance".

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