ClinVar Miner

Submissions for variant NM_005566.4(LDHA):c.348C>A (p.Ile116=)

gnomAD frequency: 0.12798  dbSNP: rs6498
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000301366 SCV000369655 benign Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV000420324 SCV000517605 benign not specified 2015-12-10 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000301366 SCV001731470 benign Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000301366 SCV001981333 benign Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency 2021-08-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000675419 SCV005317713 benign not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000675419 SCV000801099 benign not provided 2017-03-23 no assertion criteria provided clinical testing

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