ClinVar Miner

Submissions for variant NM_000532.5(PCCB):c.562G>A (p.Gly188Arg) (rs746102997)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674578 SCV000799938 likely pathogenic Propionyl-CoA carboxylase deficiency 2018-05-14 criteria provided, single submitter clinical testing
Invitae RCV000674578 SCV000961644 likely pathogenic Propionyl-CoA carboxylase deficiency 2018-10-30 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 188 of the PCCB protein (p.Gly188Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs746102997, ExAC 0.01%). This variant has been observed in individuals affected with propionic acidemia (PMID: 12559849, 22033733, 23053474, 27900673). ClinVar contains an entry for this variant (Variation ID: 558327). Experimental studies have shown that this missense change impairs enzymatic activity (PMID: 23053474). 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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