ClinVar Miner

Submissions for variant NM_000170.3(GLDC):c.632A>G (p.Tyr211Cys)

gnomAD frequency: 0.00006  dbSNP: rs139931025
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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 RCV001239243 SCV001412100 likely benign Glycine encephalopathy 2024-12-24 criteria provided, single submitter clinical testing
GeneDx RCV001539015 SCV001756742 uncertain significance not provided 2020-09-18 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV001239243 SCV001464388 uncertain significance Glycine encephalopathy 2020-05-13 no assertion criteria provided clinical testing

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