ClinVar Miner

Submissions for variant NM_001212.4(C1QBP):c.562_564del (p.Tyr188del)

dbSNP: rs755568057
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002272270 SCV002558207 likely pathogenic not provided 2022-01-13 criteria provided, single submitter clinical testing In-frame deletion of 1 amino acids in a non-repeat region predicted to critically alter the protein; This variant is associated with the following publications: (PMID: 28942965, 32652806, 34419324, 33113594, 33113593)
Invitae RCV002272270 SCV003443729 uncertain significance not provided 2022-03-14 criteria provided, single submitter clinical testing This variant, c.562_564del, results in the deletion of 1 amino acid(s) of the C1QBP protein (p.Tyr188del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs755568057, gnomAD 0.008%). This variant has been observed in individual(s) with clinical features of combined oxidative phosphorylation deficiency (PMID: 28942965, 32652806). ClinVar contains an entry for this variant (Variation ID: 441246). 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.
OMIM RCV000509581 SCV000607725 pathogenic Combined oxidative phosphorylation deficiency 33 2018-08-16 no assertion criteria provided literature only

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