ClinVar Miner

Submissions for variant NM_000282.4(PCCA):c.742G>A (p.Glu248Lys) (rs1064793224)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480056 SCV000565361 likely pathogenic not provided 2014-12-19 criteria provided, single submitter clinical testing A novel E248K variant that is likely pathogenic was identified in the PCCA gene. It has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The E248K 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 highly conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, E248K is a strong candidate for a pathogenic variant, however the possibility that it is a benign variant cannot be excluded.

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