Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000809952 | SCV000950136 | uncertain significance | 3-methylcrotonyl-CoA carboxylase 1 deficiency | 2018-10-01 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. This variant has been observed in combination with another MCCC1 variant in an individual affected with 3-methylcrotonyl-CoA carboxylase deficiency (PMID: 22642865). This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the MCCC1 gene (p.His708Glnfs*8). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 18 amino acids of the MCCC1 protein. |