Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genome Diagnostics Laboratory, |
RCV002262034 | SCV002543579 | uncertain significance | Autoinflammatory syndrome | 2016-12-12 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003101479 | SCV003021655 | uncertain significance | Majeed syndrome | 2022-01-21 | criteria provided, single submitter | clinical testing | 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with LPIN2-related conditions. This variant is present in population databases (rs562075898, gnomAD 0.04%). This sequence change replaces threonine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 120 of the LPIN2 protein (p.Thr120Asn). |