ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.127C>T (p.Gln43Ter)

dbSNP: rs2112251855
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001783635 SCV002017232 pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency 2021-08-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV001783635 SCV004194367 likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency 2023-05-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001783635 SCV004293738 pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency 2023-03-20 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 1323271). This premature translational stop signal has been observed in individual(s) with clinical features of MCCC2-related conditions (PMID: 16010683). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln43*) 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).
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV001783635 SCV004807766 pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency 2024-03-29 criteria provided, single submitter clinical testing

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