ClinVar Miner

Submissions for variant NM_018368.4(LMBRD1):c.1339-1G>T

gnomAD frequency: 0.00002  dbSNP: rs768709895
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001783602 SCV002017150 pathogenic Methylmalonic aciduria and homocystinuria type cblF 2019-08-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001783602 SCV003439497 likely pathogenic Methylmalonic aciduria and homocystinuria type cblF 2023-11-14 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 13 of the LMBRD1 gene. RNA analysis indicates that disruption of this splice site induces altered splicing and may result in an absent or disrupted protein product. This variant is present in population databases (rs768709895, gnomAD 0.002%). Disruption of this splice site has been observed in individual(s) with combined methylmalonic acidemia and hyperhomocysteinemia (PMID: 21303734). ClinVar contains an entry for this variant (Variation ID: 1323238). Studies have shown that disruption of this splice site results in skipping of exon 14 and introduces a premature termination codon (PMID: 21303734). The resulting mRNA is expected to undergo nonsense-mediated decay. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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