ClinVar Miner

Submissions for variant NM_016139.4(CHCHD2):c.434G>A (p.Arg145Gln)

dbSNP: rs752169833
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Total submissions: 2
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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

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