Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001852575 | SCV002201868 | uncertain significance | Hypertrophic cardiomyopathy | 2021-09-17 | criteria provided, single submitter | clinical testing | Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 31896). This missense change has been observed in individual(s) with dilated cardiomyopathy (PMID: 20215591; Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with valine at codon 277 of the TPM1 protein (p.Ala277Val). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and valine. 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 |
RCV000024592 | SCV000045901 | not provided | not provided | 2012-04-15 | no assertion provided | curation |