ClinVar Miner

Submissions for variant NM_018368.4(LMBRD1):c.1156C>T (p.Arg386Ter)

gnomAD frequency: 0.00001  dbSNP: rs1380343985
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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 RCV001050843 SCV001214972 pathogenic Methylmalonic aciduria and homocystinuria type cblF 2023-12-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg386*) 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 is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with methylmalonic aciduria and homocystinuria (PMID: 32552793). ClinVar contains an entry for this variant (Variation ID: 847318). For these reasons, this variant has been classified as Pathogenic.

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