ClinVar Miner

Submissions for variant NM_005566.4(LDHA):c.505C>T (p.Arg169Ter)

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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 RCV003062348 SCV003440279 pathogenic Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency 2022-08-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg169*) in the LDHA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LDHA are known to be pathogenic (PMID: 1959923). For these reasons, this variant has been classified as Pathogenic. This variant is also known as A-171. This premature translational stop signal has been observed in individual(s) with lactate dehydrogenase (LDH) M-subunit deficiency (PMID: 7603529). This variant is present in population databases (rs201372985, gnomAD 0.0009%).

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