ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.1439A>G (p.Asn480Ser)

gnomAD frequency: 0.00266  dbSNP: rs115328026
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001697347 SCV000715516 likely benign not provided 2018-06-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000878909 SCV001021900 likely benign 3-methylcrotonyl-CoA carboxylase 2 deficiency 2024-01-22 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000878909 SCV004236321 uncertain significance 3-methylcrotonyl-CoA carboxylase 2 deficiency 2023-07-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001697347 SCV005225667 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003962750 SCV004778029 benign MCCC2-related disorder 2023-11-22 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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