ClinVar Miner

Submissions for variant NM_005566.4(LDHA):c.711-3C>T

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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 RCV003082245 SCV003478791 uncertain significance Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency 2022-07-11 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. This variant has not been reported in the literature in individuals affected with LDHA-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 6 of the LDHA gene. It does not directly change the encoded amino acid sequence of the LDHA protein. It affects a nucleotide within the consensus splice site.

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