ClinVar Miner

Submissions for variant NM_004563.4(PCK2):c.424C>T (p.Arg142Ter)

gnomAD frequency: 0.00003  dbSNP: rs746104381
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001982106 SCV002212247 uncertain significance not provided 2022-10-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg142*) in the PCK2 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in PCK2 cause disease. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1432827). This variant has not been reported in the literature in individuals affected with PCK2-related conditions. This variant is present in population databases (rs746104381, gnomAD 0.02%).
Fulgent Genetics, Fulgent Genetics RCV002491992 SCV002783774 uncertain significance Phosphoenolpyruvate carboxykinase deficiency, mitochondrial 2022-01-14 criteria provided, single submitter clinical testing

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