ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.108+2T>G

gnomAD frequency: 0.00001  dbSNP: rs1057520417
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000436600 SCV000515397 uncertain significance not provided 2021-01-20 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge Not observed in large population cohorts (Lek et al., 2016) Canonical splice site variant in a gene for which loss-of-function is not a known mechanism of disease
Fulgent Genetics, Fulgent Genetics RCV002502489 SCV002812863 uncertain significance Dilated cardiomyopathy 2A; Cardiomyopathy, familial restrictive, 1; Dilated cardiomyopathy 1FF; Hypertrophic cardiomyopathy 7 2021-09-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003766205 SCV004677544 likely pathogenic Hypertrophic cardiomyopathy 2023-12-04 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 3 of the TNNI3 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in TNNI3 are known to be pathogenic (PMID: 31568572, 34036930, 35838873). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TNNI3-related conditions. ClinVar contains an entry for this variant (Variation ID: 378932). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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