Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Foundation for Research in Genetics and Endocrinology, |
RCV000779629 | SCV000899108 | pathogenic | Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies | 2019-04-12 | criteria provided, single submitter | clinical testing | The observed homozygous variant NM_001042544.1:c.2029C>T (p.R677*) is found in exon 13 of the LTBP4 gene. It is a null variant in a gene where loss of function is a known mechanism of disease and has not been found absent in general population (0.00% AFC South Asian frequency and ECGldb). Multiple lines of computational evidence support a deleterious effect of this variant on the gene or gene product. In summary, the R677* variant meets our criteria to be classified as pathogenic. |