Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000544914 | SCV000623777 | uncertain significance | Hypertrophic cardiomyopathy | 2022-07-19 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). 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. An algorithm developed specifically for the TNNI3 gene suggests that this missense change is likely to be deleterious (PMID: 21310275). ClinVar contains an entry for this variant (Variation ID: 454403). This variant has not been reported in the literature in individuals affected with TNNI3-related conditions. This sequence change replaces arginine, which is basic and polar, with serine, which is neutral and polar, at codon 69 of the TNNI3 protein (p.Arg69Ser). |