Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000996930 | SCV001151929 | uncertain significance | not provided | 2016-06-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000996930 | SCV001823687 | uncertain significance | not provided | 2020-12-21 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV000996930 | SCV002124398 | uncertain significance | not provided | 2022-07-03 | criteria provided, single submitter | clinical testing | This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 1565 of the LTBP4 protein (p.Cys1565Tyr). This variant is present in population databases (rs200665923, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with LTBP4-related conditions. ClinVar contains an entry for this variant (Variation ID: 808586). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. |
Fulgent Genetics, |
RCV002481784 | SCV002788552 | uncertain significance | Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies | 2022-01-20 | criteria provided, single submitter | clinical testing |