ClinVar Miner

Submissions for variant NM_018368.4(LMBRD1):c.1577A>G (p.Glu526Gly)

dbSNP: rs761378514
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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 RCV001865154 SCV002123648 uncertain significance Methylmalonic aciduria and homocystinuria type cblF 2022-03-23 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 C0"). This variant has not been reported in the literature in individuals affected with LMBRD1-related conditions. This variant is present in population databases (rs761378514, gnomAD 0.0009%). This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 526 of the LMBRD1 protein (p.Glu526Gly).
Ambry Genetics RCV003355576 SCV004072133 uncertain significance Inborn genetic diseases 2023-06-27 criteria provided, single submitter clinical testing The c.1577A>G (p.E526G) alteration is located in exon 16 (coding exon 16) of the LMBRD1 gene. This alteration results from a A to G substitution at nucleotide position 1577, causing the glutamic acid (E) at amino acid position 526 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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