ClinVar Miner

Submissions for variant NM_020166.5(MCCC1):c.1679dup (p.Asn560fs)

dbSNP: rs1394547323
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000653492 SCV000775372 pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency 2024-02-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn560Lysfs*10) in the MCCC1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MCCC1 are known to be pathogenic (PMID: 11181649, 15359379, 22642865). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individuals with 3-methylcrotonyl-CoA carboxylase deficiency (PMID: 24078573, 25382614; Invitae). This variant is also known as c.1680insA. ClinVar contains an entry for this variant (Variation ID: 542948). For these reasons, this variant has been classified as Pathogenic.
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital RCV000653492 SCV001739454 pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency 2020-02-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003424257 SCV004118662 pathogenic MCCC1-related disorder 2023-01-17 criteria provided, single submitter clinical testing The MCCC1 c.1679dupA variant is predicted to result in a frameshift and premature protein termination (p.Asn560Lysfs*10). This variant was reported to be causative for 3-methylcrotonyl-CoA carboxylase deficiency (Wu et al. 2019. PubMed ID: 31901042; Liu et al. 2021. PubMed ID: 34539730). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Frameshift variants in MCCC1 are expected to be pathogenic. This variant is interpreted as pathogenic.
Baylor Genetics RCV000653492 SCV004191954 pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency 2024-03-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV000653492 SCV002079088 pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency 2021-09-09 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.