Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Fulgent Genetics, |
RCV001200898 | SCV002797033 | likely pathogenic | COG5-congenital disorder of glycosylation | 2022-03-04 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001200898 | SCV003440708 | pathogenic | COG5-congenital disorder of glycosylation | 2022-01-18 | criteria provided, single submitter | clinical testing | Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This sequence change replaces methionine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 32 of the COG5 protein (p.Met32Arg). This variant is present in population databases (rs375702393, gnomAD 0.02%). This missense change has been observed in individual(s) with clinical features of COG5-congenital disorder of glycosylation (PMID: 23228021, 33277529). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 932926). 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV001200898 | SCV001371818 | pathogenic | COG5-congenital disorder of glycosylation | 2020-07-07 | no assertion criteria provided | literature only |