Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000528835 | SCV000623790 | uncertain significance | Hypertrophic cardiomyopathy | 2021-09-16 | criteria provided, single submitter | clinical testing | 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). ClinVar contains an entry for this variant (Variation ID: 454410). This missense change has been observed in individual(s) with hypertrophic cardiomyopathy (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change replaces histidine with tyrosine at codon 172 of the TNNI3 protein (p.His172Tyr). The histidine residue is highly conserved and there is a moderate physicochemical difference between histidine and tyrosine. |
Ce |
RCV001200424 | SCV001371382 | uncertain significance | not provided | 2020-06-01 | criteria provided, single submitter | clinical testing |