Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000128731 | SCV003271524 | uncertain significance | not provided | 2021-09-17 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine with phenylalanine at codon 438 of the ZMPSTE24 protein (p.Leu438Phe). The leucine residue conservation data is unavailable and there is a small physicochemical difference between leucine and phenylalanine. This variant is present in population databases (rs116771294, ExAC 0.1%). This variant has been observed in individual(s) with Mandibuloacral dysplasia with lipodystrophy (PMID: 1724554, 32041611). ClinVar contains an entry for this variant (Variation ID: 140518). 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"). Experimental studies have shown that this variant affects ZMPSTE24 protein function (PMID: 22718200, 29794150). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
ZMPSTE24 homepage - |
RCV000128731 | SCV000172371 | not provided | not provided | no assertion provided | not provided |