Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000409003 | SCV000485737 | likely pathogenic | Junctional epidermolysis bullosa gravis of Herlitz | 2016-02-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003558358 | SCV004293854 | pathogenic | not provided | 2023-03-04 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the LAMC2 protein in which other variant(s) (p.Thr1132Asnfs*38) have been determined to be pathogenic (PMID: 11564184). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 370421). This variant is also known as 3356delG. This premature translational stop signal has been observed in individual(s) with junctional epidermolysis bullosa (PMID: 16473856). This sequence change creates a premature translational stop signal (p.Leu1120Trpfs*22) in the LAMC2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 74 amino acid(s) of the LAMC2 protein. |