ClinVar Miner

Submissions for variant NM_005566.4(LDHA):c.117C>G (p.Ile39Met)

dbSNP: rs756599511
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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 RCV002003045 SCV002272851 uncertain significance Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency 2021-12-10 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 39 of the LDHA protein (p.Ile39Met). This variant is present in population databases (rs756599511, gnomAD 0.0009%). 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: "Deleterious"; PolyPhen-2: "Possibly 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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