ClinVar Miner

Submissions for variant NM_018368.4(LMBRD1):c.1396_1397insTC (p.Cys466fs)

dbSNP: rs764930914
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002238651 SCV002511840 likely pathogenic Cobalamin C disease 2022-04-15 criteria provided, single submitter clinical testing Variant summary: LMBRD1 c.1396_1397insTC (p.Cys466PhefsX42) 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 known mechanisms for disease. The variant allele was found at a frequency of 4e-06 in 250678 control chromosomes (gnomAD). To our knowledge, no occurrence of c.1396_1397insTC in individuals affected with Methylmalonic Acidemia With Homocystinuria and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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