ClinVar Miner

Submissions for variant NM_000282.4(PCCA):c.893A>G (p.Lys298Arg) (rs1444049793)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664657 SCV000788657 uncertain significance Propionyl-CoA carboxylase deficiency 2017-10-03 criteria provided, single submitter clinical testing
GeneDx RCV000522063 SCV000616817 likely pathogenic not provided 2017-09-06 criteria provided, single submitter clinical testing The K298R variant has previously been reported in an individual with propionic acidemia who was also heterozygous for a large deletion of PCCA, although the phase of these variants was not reported (Gallego-Villar et al., 2013). Functional analysis of K298R found that it is associated with 1.6% residual enzyme activity compared to wild-type (Gallego-Villar et al., 2013). The K298R variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. In summary, we interpret K298R to be a likely pathogenic variant.

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