Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000537956 | SCV000651559 | pathogenic | Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome | 2017-07-25 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg1592Alafs*7) in the LAMB2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in combination with another LAMB2 variant in an individual affected with Pierson syndrome (PMID: 25937001). Loss-of-function variants in LAMB2 are known to be pathogenic (PMID: 15367484). For these reasons, this variant has been classified as Pathogenic. |