ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.298C>T (p.Leu100Phe) (rs773216333)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics,University of Leuven RCV000498021 SCV000579542 uncertain significance Hypertrophic cardiomyopathy 2017-02-09 criteria provided, single submitter clinical testing ACMG score unknown significance
Color Health, Inc RCV001184300 SCV001350248 uncertain significance Cardiomyopathy 2019-09-13 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001193548 SCV001362448 uncertain significance not specified 2019-03-18 criteria provided, single submitter clinical testing Variant summary: TNNI3 c.298C>T (p.Leu100Phe) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 8.1e-06 in 246160 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.298C>T in individuals affected with Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. This laboratory classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute RCV000498021 SCV001430865 uncertain significance Hypertrophic cardiomyopathy 2020-03-31 no assertion criteria provided research This variant has been identified as part of our research program. Refer to the 'condition' field for the phenotype of the proband identified with this variant. For further information please feel free to contact us.

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