ClinVar Miner

Submissions for variant NM_005566.4(LDHA):c.592+7A>G

dbSNP: rs770770614
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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 RCV001060189 SCV001224865 uncertain significance Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency 2019-01-08 criteria provided, single submitter clinical testing This variant is present in population databases (rs770770614, ExAC 0.002%). 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with LDHA-related conditions. This sequence change falls in intron 5 of the LDHA gene. It does not directly change the encoded amino acid sequence of the LDHA protein.

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