Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000498973 | SCV000590115 | uncertain significance | not provided | 2017-05-30 | criteria provided, single submitter | clinical testing | A variant of uncertain significance has been identified in the LTBP4 gene. The V1234M variant has not been published as pathogenic or been reported as benign to our knowledge. However, it has been observed in 29/66306 (0.04%) alleles from individuals of Non-Finnish European ancestry in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Although this substitution occurs at a position that is conserved in mammals, V1234M is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Additionally, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. |
Invitae | RCV000498973 | SCV001052137 | likely benign | not provided | 2024-01-06 | criteria provided, single submitter | clinical testing |