ClinVar Miner

Submissions for variant NM_000282.4(PCCA):c.2002G>A (p.Gly668Arg) (rs771438170)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital RCV000235940 SCV000256857 pathogenic Propionic acidemia 2014-01-01 criteria provided, single submitter research
Counsyl RCV000235940 SCV000791909 likely pathogenic Propionic acidemia 2017-05-31 criteria provided, single submitter clinical testing
Invitae RCV000235940 SCV001398286 pathogenic Propionic acidemia 2020-04-28 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 668 of the PCCA protein (p.Gly668Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs771438170, ExAC 0.009%). This variant has been observed in individuals affected with propionic acidemia (PMID: 10329019, 29978829, 27227689, 19099776). ClinVar contains an entry for this variant (Variation ID: 218266). This variant has been reported to affect PCCA protein function (PMID: 10329019, 12385775). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Pathogenic.

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