ClinVar Miner

Submissions for variant NM_005566.4(LDHA):c.386C>G (p.Pro129Arg)

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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 RCV002755403 SCV003011172 uncertain significance Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency 2022-06-12 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with LDHA-related conditions. This variant is present in population databases (rs754439498, gnomAD 0.02%). This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 129 of the LDHA protein (p.Pro129Arg).

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