ClinVar Miner

Submissions for variant NM_000282.4(PCCA):c.1891G>C (p.Gly631Arg) (rs796052018)

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Total submissions: 2
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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 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. This variant is not present in population databases (ExAC no frequency). 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 has been reported to affect PCCA protein function (PMID: 12385775). 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.

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