ClinVar Miner

Submissions for variant NM_000170.3(GLDC):c.2474G>A (p.Gly825Asp)

gnomAD frequency: 0.00001  dbSNP: rs906049409
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489031 SCV000577659 likely pathogenic not provided 2022-01-28 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 29232014, 22171071)

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