ClinVar Miner

Submissions for variant NM_000282.4(PCCA):c.1268C>T (p.Pro423Leu) (rs1443858896)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669921 SCV000794721 likely pathogenic Propionic acidemia 2017-10-16 criteria provided, single submitter clinical testing
Invitae RCV000669921 SCV001222394 likely pathogenic Propionic acidemia 2019-03-30 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 423 of the PCCA protein (p.Pro423Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with propionic acidemia (PMID: 10518292, 20549364, 22033733). ClinVar contains an entry for this variant (Variation ID: 554310). This variant has been reported to affect PCCA protein function (PMID: 22033733, 2037281). 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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