Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001004150 | SCV001162894 | likely pathogenic | Cobalamin C disease | criteria provided, single submitter | clinical testing | ||
Invitae | RCV001004150 | SCV004245904 | pathogenic | Cobalamin C disease | 2024-01-08 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Asp60Glyfs*18) in the MMACHC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MMACHC are known to be pathogenic (PMID: 16311595). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with combined methylmalonic academia and homocystinuria, cobalamin C type (PMID: 33691766). ClinVar contains an entry for this variant (Variation ID: 813348). For these reasons, this variant has been classified as Pathogenic. |