ClinVar Miner

Submissions for variant NM_005566.4(LDHA):c.8C>T (p.Thr3Ile)

gnomAD frequency: 0.00029  dbSNP: rs200251957
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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 RCV001351584 SCV001546074 uncertain significance Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency 2022-09-02 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 3 of the LDHA protein (p.Thr3Ile). This variant is present in population databases (rs200251957, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with LDHA-related conditions. ClinVar contains an entry for this variant (Variation ID: 1046949). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
GeneDx RCV001586145 SCV001820642 uncertain significance not provided 2023-11-09 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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