ClinVar Miner

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

dbSNP: 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 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.

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