ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.904G>C (p.Val302Leu)

dbSNP: rs1583594501
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000992069 SCV001144041 uncertain significance not provided 2020-07-21 criteria provided, single submitter clinical testing
GeneDx RCV000992069 SCV005848217 pathogenic not provided 2024-08-12 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; Missense variants in this gene are a common cause of disease and they are underrepresented in the general population; This variant is associated with the following publications: (PMID: 22035297, 24918535, 24549415, 36257325, 28663157, 26552609)

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