ClinVar Miner

Submissions for variant NM_000430.4(PAFAH1B1):c.1050del (p.Lys351fs) (rs113994200)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000020298 SCV000194345 pathogenic Lissencephaly 1 2013-02-08 criteria provided, single submitter clinical testing
GeneDx RCV000254776 SCV000322237 pathogenic not provided 2015-12-30 criteria provided, single submitter clinical testing The c.1050delG pathogenic variant in the PAFAH1B1 gene has been reported previously in individuals with lissencephaly, seizures, and developmental delays (Uyanik et al., 2007; Saillour et al., 2009). The deletion causes a frameshift starting with codon Lysine 351, changes this amino acid to a Serine residue and creates a premature Stop codon at position 4 of the new reading frame, denoted p.Lys351SerfsX4. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Additionally, it was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.
GeneReviews RCV000020298 SCV000040666 pathologic Lissencephaly 1 2009-03-03 no assertion criteria provided curation Converted during submission to Pathogenic.

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