ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.539G>A (p.Arg180Gln)

gnomAD frequency: 0.00012  dbSNP: rs145846295
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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 RCV000687564 SCV000815139 likely benign 3-methylcrotonyl-CoA carboxylase 2 deficiency 2024-01-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003938037 SCV004749249 likely benign MCCC2-related disorder 2022-08-09 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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