Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001387326 | SCV001587929 | pathogenic | Charcot-Marie-Tooth disease type 2 | 2020-07-05 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Arg133 amino acid residue in LMNA. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 14615128, 11503164). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. This variant has been reported to affect LMNA protein function (PMID: 31293201, 26724531). This variant has been observed in individual(s) with lipodystrophy and clinical features of Hutchinson–Gilford progeria syndrome (PMID: 12629077, 31293201, 16174718). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 14488). This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with leucine at codon 133 of the LMNA protein (p.Arg133Leu). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and leucine. |
| OMIM | RCV000015577 | SCV000035842 | pathogenic | Familial partial lipodystrophy, Dunnigan type | 2005-12-01 | no assertion criteria provided | literature only | |
| OMIM | RCV000015578 | SCV000035843 | pathogenic | Hutchinson-Gilford progeria syndrome, childhood-onset | 2005-12-01 | no assertion criteria provided | literature only | |
| Epithelial Biology; Institute of Medical Biology, |
RCV000057399 | SCV000088512 | not provided | not provided | no assertion provided | not provided |