ClinVar Miner

Submissions for variant NM_000430.4(PAFAH1B1):c.162dup (p.Trp55fs) (rs113994198)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva,University Hospital of Geneva RCV000020303 SCV000537742 pathogenic Lissencephaly 1 2015-06-29 criteria provided, single submitter clinical testing
GeneDx RCV000364082 SCV000329811 pathogenic not provided 2018-04-10 criteria provided, single submitter clinical testing The c.162dupA pathogenic variant in the PAFAH1B1 gene has been reported previously as a de novo variant in an individual with isolated lissencephaly sequence (Pilz et al., 1998). The duplication causes a frameshift starting with codon Tryptophan 55, changes this amino acid to a Methionine residue and creates a premature Stop codon at position 6 of the new reading frame, denoted p.Trp55MetfsX6. 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 6,300 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 RCV000020303 SCV000040671 pathologic Lissencephaly 1 2009-03-03 no assertion criteria provided curation Converted during submission to Pathogenic.
Genetic Services Laboratory, University of Chicago RCV000020303 SCV000248425 pathogenic Lissencephaly 1 2013-02-08 criteria provided, single submitter clinical testing

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