ClinVar Miner

Submissions for variant NM_000532.4(PCCB):c.872G>A (p.Cys291Tyr) (rs77820367)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000430877 SCV000518817 likely pathogenic not provided 2017-06-02 criteria provided, single submitter clinical testing The C291Y variant has previously been reported in a patient with propionic acidemia who was heterozygous for C291Y and in whom a second variant in PCCB was not identified; however this patient was also homozygous for a pathogenic variant in the PCCA gene (Kraus et al., 2012). Expression of C291Y in E. coli found that it is associated with significantly reduced enzyme activity (Kraus et al., 2012). The NHLBI Exome Sequencing Project and the 1000 Genomes Project Consortium reports C291Y was observed in 0.3%-1% of alleles from individuals of European background. The C291Y variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved in mammals, and in silico analysis predicts this variant is probably damaging to the protein structure/function. In summary, we interpret this variant as likely pathogenic.
Invitae RCV000529973 SCV000631919 likely benign Propionyl-CoA carboxylase deficiency 2017-04-07 criteria provided, single submitter clinical testing

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