Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003556255 | SCV004283995 | uncertain significance | not provided | 2023-09-08 | 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. Experimental studies have shown that this missense change affects CHCHD2 function (PMID: 28432706, 28589937, 30496485, 35173147). 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: 218883). This missense change has been observed in individual(s) with Parkinson disease (PMID: 25662902, 27269965). This variant is present in population databases (rs752169833, gnomAD 0.03%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 145 of the CHCHD2 protein (p.Arg145Gln). |
OMIM | RCV000203222 | SCV000258298 | pathogenic | Parkinson disease 22, autosomal dominant | 2015-07-01 | no assertion criteria provided | literature only |