ClinVar Miner

Submissions for variant NM_018368.4(LMBRD1):c.1331T>C (p.Leu444Ser)

dbSNP: rs2149843427
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001967221 SCV002201085 uncertain significance Methylmalonic aciduria and homocystinuria type cblF 2021-04-16 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C65"). This variant has not been reported in the literature in individuals with LMBRD1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with serine at codon 444 of the LMBRD1 protein (p.Leu444Ser). The leucine residue is highly conserved and there is a large physicochemical difference between leucine and serine.
Fulgent Genetics, Fulgent Genetics RCV001967221 SCV002790299 uncertain significance Methylmalonic aciduria and homocystinuria type cblF 2021-09-15 criteria provided, single submitter clinical testing

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