Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003072059 | SCV003465587 | uncertain significance | Loeys-Dietz syndrome 2 | 2022-10-17 | 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 and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with TMPO-related conditions. This variant is present in population databases (rs745639054, gnomAD 0.02%). This sequence change creates a premature translational stop signal (p.Leu373Glyfs*17) in the TMPO gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 322 amino acid(s) of the TMPO protein. |
Gene |
RCV004786821 | SCV005401759 | uncertain significance | not provided | 2024-05-12 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); Frameshift variant predicted to result in abnormal protein length as the last 322 amino acids are replaced with 16 different amino acids |