ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.776C>G (p.Ala259Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV005004601 SCV005629018 uncertain significance not provided 2024-07-18 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Missense variants in this gene are a common cause of disease and they are underrepresented in the general population; In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 9713013, 22761713, 25414397, 29056535, 31638168, 31604004, 34956103)

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