Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000672078 | SCV000797140 | likely pathogenic | Cobalamin C disease | 2018-01-15 | criteria provided, single submitter | clinical testing | |
Neuberg Supratech Reference Laboratories Pvt Ltd, |
RCV000672078 | SCV004046957 | likely pathogenic | Cobalamin C disease | criteria provided, single submitter | clinical testing | The frame shift variant c.273_276del (p.Glu92AlafsTer7) in MMACHC gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Glu92AlafsTer7 variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. This variant causes a frameshift starting with codon Glutamic Acid 92, changes this amino acid to Alanine residue, and creates a premature Stop codon at position 7 of the new reading frame, denoted p.Glu92AlafsTer7. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic. | |
Baylor Genetics | RCV000672078 | SCV004193208 | likely pathogenic | Cobalamin C disease | 2023-01-19 | criteria provided, single submitter | clinical testing |