Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001174705 | SCV001337967 | uncertain significance | not specified | 2020-01-20 | criteria provided, single submitter | clinical testing | Variant summary: TMEM43 c.64C>T (p.Gln22X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay. The variant was absent in 251412 control chromosomes. To our knowledge, no occurrence of c.64C>T in individuals affected with Arrhythmia and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Truncating mutations in this gene have not been reported as pathogenic by our lab or ClinVar. Based on the evidence outlined above, the variant was classified as a VUS. |