ClinVar Miner

Submissions for variant NM_018368.4(LMBRD1):c.229C>T (p.Gln77Ter)

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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 RCV003496012 SCV004324249 pathogenic Methylmalonic aciduria and homocystinuria type cblF 2023-09-19 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln77*) in the LMBRD1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LMBRD1 are known to be pathogenic (PMID: 19136951, 21303734). This variant has not been reported in the literature in individuals affected with LMBRD1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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