Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001174666 | SCV001337883 | likely pathogenic | Schwannomatosis | 2020-01-06 | criteria provided, single submitter | clinical testing | Variant summary: LZTR1 c.372_385del14 (p.Val125HisfsX16) 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, which are commonly known mechanisms for disease. The variant was absent in 251242 control chromosomes (gnomAD). To our knowledge, no occurrence of c.372_385del14 in individuals affected with Schwannomatosis and no experimental evidence demonstrating an impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic. |
| Labcorp Genetics |
RCV001383256 | SCV001582344 | pathogenic | not provided | 2020-03-06 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with LZTR1-related conditions. This sequence change creates a premature translational stop signal (p.Val125Hisfs*16) in the LZTR1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). Loss-of-function variants in LZTR1 are known to be pathogenic (PMID: 24362817, 25335493, 25480913, 29469822, 30442762, 30859559). For these reasons, this variant has been classified as Pathogenic. |