ClinVar Miner

Submissions for variant NM_005566.4(LDHA):c.766G>A (p.Val256Ile)

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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 RCV002609813 SCV002968314 uncertain significance Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency 2022-05-09 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 256 of the LDHA protein (p.Val256Ile). This variant is not present in population databases (gnomAD no frequency). 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 (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.
Ambry Genetics RCV002609812 SCV003570336 uncertain significance Inborn genetic diseases 2021-08-13 criteria provided, single submitter clinical testing The c.766G>A (p.V256I) alteration is located in exon 7 (coding exon 6) of the LDHA gene. This alteration results from a G to A substitution at nucleotide position 766, causing the valine (V) at amino acid position 256 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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