ClinVar Miner

Submissions for variant NM_005566.4(LDHA):c.445A>G (p.Lys149Glu)

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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 RCV003077212 SCV003456046 uncertain significance Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency 2022-08-07 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 149 of the LDHA protein (p.Lys149Glu). This variant is present in population databases (rs145506651, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with LDHA-related conditions. 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.

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