ClinVar Miner

Submissions for variant NM_001258392.3(CLPB):c.1610A>G (p.Tyr537Cys)

dbSNP: rs150857620
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000258952 SCV001199152 likely pathogenic 3-methylglutaconic aciduria, type VIIB 2023-12-11 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 567 of the CLPB protein (p.Tyr567Cys). This variant is present in population databases (rs150857620, gnomAD 0.01%). This missense change has been observed in individual(s) with CLPB deficiency (PMID: 25597510; Invitae). 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: 279609). 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. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001267996 SCV001446561 likely pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Baylor Genetics RCV000258952 SCV001523452 uncertain significance 3-methylglutaconic aciduria, type VIIB 2020-07-28 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV001267996 SCV001764691 likely pathogenic not provided 2024-05-13 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: CupoR2024[Review], 25597510, 27891836)
Revvity Omics, Revvity RCV001267996 SCV004235336 uncertain significance not provided 2023-06-26 criteria provided, single submitter clinical testing
GeneReviews RCV000258952 SCV000328971 not provided 3-methylglutaconic aciduria, type VIIB no assertion provided literature only

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