Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Diagnostics Services |
RCV002465038 | SCV002759431 | likely pathogenic | Atrial conduction disease | 2022-08-11 | criteria provided, single submitter | clinical testing | The c.538G>T variant is not present in publicly available population databases like 1000 Genomes and Exome Variant Server (EVS) and Indian Exome Database. The variant is present in Exome Aggregation Consortium (ExAC) and Genome Aggregation Database (gnomAD), at a low frequency. The variant not present in our in-house exome database. This variant has not been published in literature or reported to clinical databases like ClinVar, Human Genome Mutation Database (HGMD) and OMIM, in any affected individuals. In-silico pathogenicity prediction programs like MutationTaster2, CADD, Varsome, Franklin etc. predicted this variant to be likely deleterious. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. |
| Labcorp Genetics |
RCV002573562 | SCV003339937 | uncertain significance | not provided | 2022-04-15 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with TNNI3K-related conditions. 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. This variant is present in population databases (rs746684996, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Glu180*) in the TNNI3K gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in TNNI3K cause disease. |