ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.600G>A (p.Val200=)

gnomAD frequency: 0.00006  dbSNP: rs773561406
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002226133 SCV002504514 likely benign not provided 2019-04-29 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Labcorp Genetics (formerly Invitae), Labcorp RCV002226133 SCV003453667 benign not provided 2023-04-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV002226133 SCV004564194 likely benign not provided 2023-06-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV004047229 SCV004873349 likely benign Maturity onset diabetes mellitus in young 2023-09-23 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003903621 SCV004724661 likely benign GCK-related disorder 2019-03-04 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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