ClinVar Miner

Submissions for variant NM_005566.4(LDHA):c.764_765del (p.Ser255fs)

dbSNP: rs779893062
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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 RCV001207792 SCV001379159 uncertain significance Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency 2019-05-31 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the LDHA gene (p.Ser255Cysfs*13). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 78 amino acids of the LDHA protein. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with LDHA-related conditions. 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.

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