Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV001198589 | SCV001369579 | likely pathogenic | CODAS syndrome | 2019-07-17 | criteria provided, single submitter | clinical testing | This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PS1,PM2,PP1-M,PP3. |
Invitae | RCV001863129 | SCV002301671 | uncertain significance | not provided | 2023-09-04 | 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 931723). This missense change has been observed in individual(s) with clinical features of CODAS syndrome (PMID: 25808063, 27878435). This variant is present in population databases (rs777009012, gnomAD 0.02%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 672 of the LONP1 protein (p.Arg672Cys). |
Ce |
RCV001863129 | SCV004146375 | uncertain significance | not provided | 2022-07-01 | criteria provided, single submitter | clinical testing | LONP1: PM2 |