ClinVar Miner

Submissions for variant NM_000170.3(GLDC):c.1508A>C (p.Glu503Ala)

gnomAD frequency: 0.00005  dbSNP: rs201890453
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000638288 SCV000759782 benign Glycine encephalopathy 2025-01-30 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000638288 SCV001328244 benign Glycine encephalopathy 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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
GeneDx RCV001571100 SCV001795511 likely benign not provided 2021-06-08 criteria provided, single submitter clinical testing

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