Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000664489 | SCV000788456 | likely pathogenic | Propionic acidemia | 2018-02-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000664489 | SCV001210697 | likely pathogenic | Propionic acidemia | 2020-10-07 | criteria provided, single submitter | clinical testing | In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant has been reported to affect PCCA protein function (PMID: 12385775). This variant has been observed in individual(s) with propionic acidemia (PMID: 10780784, 12385775, 27825584). ClinVar contains an entry for this variant (Variation ID: 203878). This variant is also known as c.1816G>C (p.Gly606Arg) in the literature. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with arginine at codon 631 of the PCCA protein (p.Gly631Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. |