ClinVar Miner

Submissions for variant NM_000430.4(PAFAH1B1):c.121G>A (p.Glu41Lys) (rs587784250)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147019 SCV000194359 likely pathogenic Lissencephaly 1 2013-02-08 criteria provided, single submitter clinical testing
GeneDx RCV000484701 SCV000571159 likely pathogenic not provided 2017-02-27 criteria provided, single submitter clinical testing A published E41K variant that is likely pathogenic has been identified in the PAFAH1B1 gene. The E41K variant has been reported previously in an individual with lissencephaly (Mei et al., 2008). It was not observed in approximately 6,100 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The E41K 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 across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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