ClinVar Miner

Submissions for variant NM_005566.4(LDHA):c.170A>G (p.Lys57Arg)

dbSNP: rs2134021578
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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 RCV001918277 SCV002179203 uncertain significance Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency 2021-08-13 criteria provided, single submitter clinical testing This sequence change replaces lysine with arginine at codon 57 of the LDHA protein (p.Lys57Arg). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals 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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