ClinVar Miner

Submissions for variant NM_001258392.3(CLPB):c.1293dup (p.Asp432fs)

gnomAD frequency: 0.00004  dbSNP: rs774722200
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001387772 SCV001588487 pathogenic 3-methylglutaconic aciduria, type VIIB 2020-03-31 criteria provided, single submitter clinical testing Loss-of-function variants in CLPB are known to be pathogenic (PMID: 25597510, 28687938). This variant has been observed in individual(s) with CLPB deficiency (PMID: 28687938). This variant is present in population databases (rs774722200, ExAC 0.002%). This sequence change creates a premature translational stop signal (p.Asp462Argfs*11) in the CLPB gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic.

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