Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000543528 | SCV000656955 | pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency | 2016-12-30 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, loss-of-function variants in MCCC1 are known to be pathogenic (PMID: 16010683). This sequence change deletes 14 nucleotides from exon 16 of the MCCC1 mRNA (c.1819_1832delAGTAAAGCGAAGCT), causing a frameshift at codon 607. This creates a premature translational stop signal (p.Ser607Aspfs*17) and is expected to result in an absent or disrupted protein product. |