Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000629029 | SCV000749939 | uncertain significance | Hypertrophic cardiomyopathy | 2017-09-20 | 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with TPM1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces asparagine with aspartic acid at codon 203 of the TPM1 protein (p.Asn203Asp). The asparagine residue is moderately conserved and there is a small physicochemical difference between asparagine and aspartic acid. |
Genome Diagnostics Laboratory, |
RCV001702695 | SCV001930371 | likely pathogenic | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001702695 | SCV001951909 | likely pathogenic | not provided | no assertion criteria provided | clinical testing |