Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001380802 | SCV001578981 | pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency | 2023-07-22 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1069056). This premature translational stop signal has been observed in individual(s) with a positive newborn screening result for MCCC1-related disease (PMID: 31901042). This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Gln105*) 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). |
Baylor Genetics | RCV001380802 | SCV004194283 | likely pathogenic | 3-methylcrotonyl-CoA carboxylase 1 deficiency | 2023-05-10 | criteria provided, single submitter | clinical testing |