ClinVar Miner

Submissions for variant NM_001040716.2(PC):c.1701C>T (p.Asp567=)

gnomAD frequency: 0.00005  dbSNP: rs376240725
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000897040 SCV001041157 likely benign Pyruvate carboxylase deficiency 2024-01-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003940789 SCV004754292 likely benign PC-related condition 2019-06-08 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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