Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000128756 | SCV002246423 | pathogenic | not provided | 2021-05-18 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). This variant has been observed in individual(s) with mandibuloacral dysplasia (PMID: 18435794, 20814950). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 4275). This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with leucine at codon 248 of the ZMPSTE24 protein (p.Pro248Leu). There is a moderate physicochemical difference between proline and leucine. |
| OMIM | RCV000004496 | SCV000024670 | pathogenic | Mandibuloacral dysplasia with type B lipodystrophy | 2010-11-01 | no assertion criteria provided | literature only | |
| ZMPSTE24 homepage - |
RCV000128756 | SCV000172396 | not provided | not provided | no assertion provided | not provided |