ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.994C>T (p.Arg332Ter)

gnomAD frequency: 0.00001  dbSNP: rs727504010
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173893 SCV000225065 pathogenic not provided 2014-01-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001384042 SCV001583411 pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency 2024-02-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg332*) in the MCCC2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MCCC2 are known to be pathogenic (PMID: 11181649, 22642865). This variant is present in population databases (rs727504010, gnomAD 0.03%). This premature translational stop signal has been observed in individual(s) with 3MCC deficiency (PMID: 16010683). ClinVar contains an entry for this variant (Variation ID: 167279). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV001384042 SCV002017234 pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency 2022-06-20 criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV001384042 SCV004171971 likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency 2023-01-24 criteria provided, single submitter clinical testing Dysmorphism: Short stature, triangular facies, blue sclera, hypospadias, ambiguous genitalia Clinical suspicion: Noonan syndrome/Atypical RS Genes of interest: DPH1/TMEM94
Baylor Genetics RCV001384042 SCV004194317 pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency 2024-03-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001384042 SCV005666609 pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency 2024-05-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV001384042 SCV002084912 pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency 2020-05-13 no assertion criteria provided clinical testing

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