Submissions for variant NM_005566.4(LDHA):c.608G>C (p.Gly203Ala)

gnomAD frequency: 0.00181  dbSNP: rs34305721

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000423489	SCV000520677	benign	not specified	2016-04-13	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	RCV001104040	SCV001122564	benign	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	2024-01-19	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001104040	SCV001260867	benign	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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Breakthrough Genomics, Breakthrough Genomics	RCV000675426	SCV005317723	benign	not provided		criteria provided, single submitter	not provided
Mayo Clinic Laboratories, Mayo Clinic	RCV000675426	SCV000801106	likely benign	not provided	2017-04-24	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003922749	SCV004749569	benign	LDHA-related disorder	2019-07-02	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).