Submissions for variant NM_005566.4(LDHA):c.439G>T (p.Ala147Ser)

gnomAD frequency: 0.00148  dbSNP: rs116841148

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Mayo Clinic Laboratories, Mayo Clinic	RCV000675421	SCV000801101	uncertain significance	not provided	2022-11-18	criteria provided, single submitter	clinical testing	BS1
Invitae	RCV001107663	SCV001036448	likely benign	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	2024-01-29	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001107663	SCV001264838	uncertain significance	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CeGaT Center for Human Genetics Tuebingen	RCV000675421	SCV001747581	uncertain significance	not provided	2023-11-01	criteria provided, single submitter	clinical testing	LDHA: PP3
GeneDx	RCV000675421	SCV001770226	likely benign	not provided	2019-07-12	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 26838040)