ClinVar Miner

Submissions for variant NM_000170.3(GLDC):c.176G>C (p.Arg59Thr)

dbSNP: rs386833530
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000049458 SCV001368409 likely pathogenic Glycine encephalopathy 2019-02-28 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PM3,PM2,PS1,PP3.
Ambry Genetics RCV004018964 SCV004876279 uncertain significance Inborn genetic diseases 2023-10-10 criteria provided, single submitter clinical testing The c.176G>C (p.R59T) alteration is located in exon 1 (coding exon 1) of the GLDC gene. This alteration results from a G to C substitution at nucleotide position 176, causing the arginine (R) at amino acid position 59 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049458 SCV000081892 probable-pathogenic Glycine encephalopathy no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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