ClinVar Miner

Submissions for variant NM_000532.5(PCCB):c.1534C>T (p.Arg512Cys) (rs186710233)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000032128 SCV000055683 pathologic Propionyl-CoA carboxylase deficiency 2012-05-17 no assertion criteria provided curation Converted during submission to Pathogenic.
Invitae RCV000032128 SCV000943118 pathogenic Propionyl-CoA carboxylase deficiency 2018-12-07 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 512 of the PCCB protein (p.Arg512Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs186710233, ExAC 0.001%). This variant has been observed to occur as homozygous or in combination with other PCCB variants in several individuals affected with propionic acidemia (PMID: 9683601, 23053474, 22033733, 24863100, 15059621). This variant has also been observed to segregate with propionic acidemia in a family (PMID: 22033733). ClinVar contains an entry for this variant (Variation ID: 38879). This variant has been reported to affect PCCB protein stability and assembly (PMID: 12757933, 11136555, 11749052). For these reasons, this variant has been classified as Pathogenic.

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