ClinVar Miner

Submissions for variant NM_004563.4(PCK2):c.1756G>A (p.Gly586Ser)

gnomAD frequency: 0.00277  dbSNP: rs61737098
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811462 SCV000884292 uncertain significance not provided 2022-04-08 criteria provided, single submitter clinical testing
Baylor Genetics RCV001335151 SCV001528233 uncertain significance Phosphoenolpyruvate carboxykinase deficiency, mitochondrial 2018-10-11 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV001811462 SCV002389489 likely benign not provided 2024-01-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003938134 SCV004750225 likely benign PCK2-related condition 2022-05-09 criteria provided, single submitter 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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