ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.164A>C (p.Gln55Pro) (rs775512887)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000704620 SCV000833576 uncertain significance Hypertrophic cardiomyopathy 2018-03-07 criteria provided, single submitter clinical testing This sequence change replaces glutamine with proline at codon 55 of the TNNI3 protein (p.Gln55Pro). The glutamine residue is highly conserved and there is a moderate physicochemical difference between glutamine and proline. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with TNNI3-related disease. A computational algorithm designed to assess the pathogenicity of variants in TNNI3 with regard to hypertrophic cardiomyopathy predicted this sequence change to be deleterious. The algorithm has a sensitivity of 94% and a specificity of 89% (PMID: 21310275). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Color Health, Inc RCV001185161 SCV001351315 uncertain significance Cardiomyopathy 2018-11-07 criteria provided, single submitter clinical testing

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