ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.114dup (p.Ser39fs) (rs772607683)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484567 SCV000567501 uncertain significance not provided 2021-01-29 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 419596; Landrum et al., 2016) Not observed at a significant frequency in large population cohorts (Lek et al., 2016) Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is not a well-established mechanism of disease The majority of reported TNNI3 variants in HGMD are missense variants (Stenson et al., 2014)
Color Health, Inc RCV001184324 SCV001350276 uncertain significance Cardiomyopathy 2020-11-17 criteria provided, single submitter clinical testing This variant inserts 1 nucleotide in exon 4 of the TNNI3 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been reported in four ostensibly healthy individuals (PMID: 24510615). This variant has been identified in 2/176158 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Clinical relevance of loss-of-function truncation and splice variants in the TMEM43 gene is not clearly established. 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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