ClinVar Miner

Submissions for variant NM_018368.4(LMBRD1):c.515_516del (p.Thr172fs)

dbSNP: rs779151199
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000000546 SCV001520379 pathogenic Methylmalonic aciduria and homocystinuria type cblF 2020-06-26 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. This variant has been previously reported as disease-causing [PMID 19136951]
Genetic Services Laboratory, University of Chicago RCV001818113 SCV002064501 pathogenic not provided 2017-09-19 criteria provided, single submitter clinical testing
GeneDx RCV001818113 SCV004170885 likely pathogenic not provided 2023-04-20 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 31589614, Braz2022[thesis], 19136951, 34958133)
Labcorp Genetics (formerly Invitae), Labcorp RCV000000546 SCV004293771 pathogenic Methylmalonic aciduria and homocystinuria type cblF 2024-03-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr172Argfs*10) 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 present in population databases (rs779151199, gnomAD 0.02%). This premature translational stop signal has been observed in individual(s) with LMBRD1-related conditions (PMID: 34958133). ClinVar contains an entry for this variant (Variation ID: 517). For these reasons, this variant has been classified as Pathogenic.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004782001 SCV005395077 pathogenic Cobalamin C disease 2024-09-10 criteria provided, single submitter clinical testing Variant summary: LMBRD1 c.515_516delCA (p.Thr172ArgfsX10) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant allele was found at a frequency of 2.8e-05 in 251120 control chromosomes. c.515_516delCA has been reported in the literature the homozygous state in at least 1 individual affected with clinical features of LMBRD1-related conditions (example, Braz_2022). The following publication has been ascertained in the context of this evaluation (PMID: 34958133). ClinVar contains an entry for this variant (Variation ID: 517). Based on the evidence outlined above, the variant was classified as pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000000546 SCV005672783 pathogenic Methylmalonic aciduria and homocystinuria type cblF 2024-06-19 criteria provided, single submitter clinical testing
OMIM RCV000000546 SCV000020695 pathogenic Methylmalonic aciduria and homocystinuria type cblF 2009-02-01 no assertion criteria provided literature only

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