Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000813393 | SCV000953752 | uncertain significance | Hypertrophic cardiomyopathy | 2022-06-08 | criteria provided, single submitter | clinical testing | This sequence change replaces lysine, which is basic and polar, with threonine, which is neutral and polar, at codon 70 of the TPM1 protein (p.Lys70Thr). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with mild hypertrophic cardiomyopathy (PMID: 8774330). ClinVar contains an entry for this variant (Variation ID: 31878). 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 C0"). Experimental studies have shown that this missense change affects TPM1 function (PMID: 12900417, 15479242, 25241052). 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. |
| Leiden Muscular Dystrophy |
RCV000024574 | SCV000045880 | not provided | not provided | 2012-04-15 | no assertion provided | curation |