Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000687638 | SCV000815218 | uncertain significance | Majeed syndrome | 2022-10-25 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 233 of the LPIN2 protein (p.Thr233Ile). This variant is present in population databases (rs139654849, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with LPIN2-related conditions. ClinVar contains an entry for this variant (Variation ID: 567527). 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. 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. |
ARUP Laboratories, |
RCV000687638 | SCV001160145 | uncertain significance | Majeed syndrome | 2018-12-18 | criteria provided, single submitter | clinical testing | The LPIN2 c.698C>T; p.Thr233Ile variant (rs139654849), to our knowledge, is not reported in the medical literature or in gene-specific databases. The variant is reported in the ClinVar database (Variation ID: 567527) and in the general population with an allele frequency of 0.1% (27/281554 alleles) in the Genome Aggregation Database. The amino acid at this position is weakly conserved and computational algorithms (PolyPhen-2, SIFT) predict this variant is tolerated. Considering available information, the clinical significance of this variant cannot be determined with certainty. |
Mayo Clinic Laboratories, |
RCV001507394 | SCV001712928 | uncertain significance | not provided | 2020-05-19 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002263931 | SCV002543592 | uncertain significance | Autoinflammatory syndrome | 2021-08-11 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000687638 | SCV003817032 | uncertain significance | Majeed syndrome | 2023-09-11 | criteria provided, single submitter | clinical testing |