Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000216028 | SCV000271901 | uncertain significance | not specified | 2015-07-16 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Benign. The p.Ile201Thr var iant in LAMP2 has not been previously reported in individuals with cardiomyopath y or in large population studies. Pathogenic missense variants in LAMP2 are exce edingly rare (nearly all the disease-causing variants cause a truncated or absen t protein). In addition, computational prediction tools and conservation analys is suggest that the p.Ile201Thr variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of the p.Ile201Thr variant is uncertain although it is sus pected to be more likely benign. |