ClinVar Miner

Submissions for variant NM_005566.4(LDHA):c.52A>G (p.Thr18Ala)

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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 RCV002971175 SCV003283551 uncertain significance Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency 2022-04-15 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with LDHA-related conditions. This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 18 of the LDHA protein (p.Thr18Ala). This variant is present in population databases (rs199585928, gnomAD 0.003%). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The alanine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Ambry Genetics RCV004068241 SCV004897921 uncertain significance Inborn genetic diseases 2023-09-20 criteria provided, single submitter clinical testing The c.52A>G (p.T18A) alteration is located in exon 2 (coding exon 1) of the LDHA gene. This alteration results from a A to G substitution at nucleotide position 52, causing the threonine (T) at amino acid position 18 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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