Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV002513006 | SCV003441689 | uncertain significance | Hypertrophic cardiomyopathy | 2022-07-07 | 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. Experimental studies have shown that this missense change affects TPM1 function (PMID: 15923195, 19222994, 21741356, 23539503, 32618513). 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: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 12459). This missense change has been observed in individual(s) with dilated cardiomyopathy (PMID: 11273725). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 40 of the TPM1 protein (p.Glu40Lys). |
| OMIM | RCV000013275 | SCV000033522 | pathogenic | Dilated cardiomyopathy 1Y | 2001-04-01 | no assertion criteria provided | literature only | |
| Leiden Muscular Dystrophy |
RCV000013275 | SCV000045875 | not provided | Dilated cardiomyopathy 1Y | 2012-04-15 | no assertion provided | curation |