Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000200556 | SCV000251106 | pathogenic | not provided | 2014-10-21 | criteria provided, single submitter | clinical testing | p.Met1? (ATG>ATC): c.3 G>C in exon 2 of the AGK gene (NM_018238.3)The c.3 G>C mutation has been reported previously in association with Sengers syndrome in two individuals who were also heterozygous for another mutation in the AGK gene (Mayr et al., 2012). The mutation alters the initiator Methionine codon, and the resultant protein would be described as p.Met1?" using a question mark to signify that it is not known if the loss of Met1 means that all protein translation is completely prevented or if an abnormal protein is produced using an alternate Met. The variant is found in MITONUC-MITOP panel(s)." |
OMIM | RCV000023811 | SCV000045102 | pathogenic | Sengers syndrome | 2012-02-10 | no assertion criteria provided | literature only |