ClinVar Miner

Submissions for variant NM_018368.4(LMBRD1):c.23C>T (p.Ser8Leu)

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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 RCV002584691 SCV003489923 uncertain significance Methylmalonic aciduria and homocystinuria type cblF 2023-05-15 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant  is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 2173718). This variant has not been reported in the literature in individuals affected with LMBRD1-related conditions. This variant is present in population databases (rs200743541, gnomAD 0.005%). This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 8 of the LMBRD1 protein (p.Ser8Leu).

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