ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.416T>G (p.Phe139Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Health, Inc RCV001524283 SCV001734085 uncertain significance Cardiomyopathy 2021-02-02 criteria provided, single submitter clinical testing This missense variant replaces phenylalanine with cysteine at codon 139 of the TNNI3 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in an individual affected with arrhythmogenic cardiomyopathy and in an unaffected family member of this proband (PMID: 30385303). This variant has been identified in 3/248810 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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