Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000825946 | SCV000967431 | uncertain significance | not specified | 2018-10-11 | criteria provided, single submitter | clinical testing | The p.Gly399Ser variant in LAMP2 has not been previously reported in individuals with cardiomyopathy and was absent from large population studies. Computational prediction tools and conservation analysis suggest that this variant may impact the protein, though this information is not predictive enough to determine path ogenicity. In summary, the clinical significance of the p.Gly399Ser variant is u ncertain. ACMG/AMP Criteria applied: PM2, PP3. |