ClinVar Miner

Submissions for variant NM_001040716.2(PC):c.3258C>G (p.Ser1086=)

gnomAD frequency: 0.00039  dbSNP: rs138238125
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000186109 SCV000239134 benign not specified 2014-10-30 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000902578 SCV001047006 likely benign Pyruvate carboxylase deficiency 2024-01-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003401021 SCV004137014 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing PC: BP4, BP7

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