ClinVar Miner

Submissions for variant NM_001258392.3(CLPB):c.658C>T (p.Arg220Ter)

dbSNP: rs777202372
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000258945 SCV003440507 pathogenic 3-methylglutaconic aciduria, type VIIB 2023-01-30 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 279604). This premature translational stop signal has been observed in individual(s) with 3-methylglutaconic aciduria (PMID: 25597510, 27290639). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg250*) in the CLPB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CLPB are known to be pathogenic (PMID: 25597510, 28687938).
GeneReviews RCV000258945 SCV000328959 not provided 3-methylglutaconic aciduria, type VIIB no assertion provided literature only

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