ClinVar Miner

Submissions for variant NM_001212.4(C1QBP):c.612C>G (p.Phe204Leu)

gnomAD frequency: 0.00003  dbSNP: rs767427194
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001567412 SCV001791090 likely pathogenic not provided 2021-06-17 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 28942965, 32652806, 34003581, 33113594, 33113593, 27535533)
Invitae RCV001567412 SCV003442476 pathogenic not provided 2023-10-14 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 204 of the C1QBP protein (p.Phe204Leu). This variant is present in population databases (rs767427194, gnomAD 0.005%). This missense change has been observed in individual(s) with C1QBP-related conditions (PMID: 28942965, 32652806, 34003581). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 441242). 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. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000509576 SCV000607721 pathogenic Combined oxidative phosphorylation deficiency 33 2017-10-12 no assertion criteria provided literature only

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