Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001862654 | SCV002227346 | uncertain significance | not provided | 2022-09-28 | 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. ClinVar contains an entry for this variant (Variation ID: 869196). This missense change has been observed in individual(s) with Perrault syndrome (PMID: 32399598). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (rs376296747, gnomAD 0.01%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 413 of the LARS2 protein (p.Glu413Lys). |
Fulgent Genetics, |
RCV002482158 | SCV002793692 | uncertain significance | Perrault syndrome 4; Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Reproductive Development, |
RCV001201400 | SCV001244305 | likely pathogenic | Perrault syndrome 4 | 2019-10-21 | no assertion criteria provided | research |