ClinVar Miner

Submissions for variant NM_001258392.3(CLPB):c.449_451delinsAATAT (p.Val150fs)

dbSNP: rs1856508068
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001248665 SCV001422170 pathogenic 3-methylglutaconic aciduria, type VIIB 2019-05-06 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in CLPB are known to be pathogenic (PMID: 25597510, 28687938). This variant has not been reported in the literature in individuals with CLPB-related conditions. This sequence change creates a premature translational stop signal (p.Val150Glufs*92) in the CLPB gene. It is expected to result in an absent or disrupted protein product.

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