Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000488024 | SCV000575009 | uncertain significance | not provided | 2019-12-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003586187 | SCV004319659 | uncertain significance | Hypertrophic cardiomyopathy | 2023-09-03 | 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 425070). This variant has not been reported in the literature in individuals affected with TPM1-related conditions. This variant, c.408_410del, is a complex sequence change that results in the deletion of 2 and insertion of 1 amino acid(s) in the TPM1 protein (p.Lys136_Asp137delinsAsn). |