ClinVar Miner

Submissions for variant NM_015978.3(TNNI3K):c.2222C>A (p.Ser741Ter)

dbSNP: rs548261851
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004547273 SCV005042692 likely pathogenic Atrial conduction disease criteria provided, single submitter clinical testing The stop gained variant c.2222C>Ap.Ser741Ter in the TNNI3K gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The variant is novel not in any individuals in gnomAD Exomes and 1000 Genomes. This variant is predicted to cause a loss of normal protein function through protein truncation. Loss of function variants has been previously reported to be disease-causing Liu et al., 2020. For these reasons, this variant has been classified as Likely Pathogenic.
Department of Pathology and Laboratory Medicine, Sinai Health System RCV004547273 SCV005918286 uncertain significance Atrial conduction disease 2022-04-26 criteria provided, single submitter research

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