ClinVar Miner

Submissions for variant NM_000430.4(PAFAH1B1):c.716dup (p.Met239fs)

dbSNP: rs587784284
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147058 SCV000596199 pathogenic Lissencephaly due to LIS1 mutation 2013-12-31 no assertion criteria provided clinical testing DNA sequence analysis of the PAFAH1B1 gene demonstrated a one base pair duplication in exon 8, c.716dup. This pathogenic sequence change results in an amino acid frameshift and creates a premature stop codon 16 amino acids downstream of the mutation, p.Met239Ilefs*17. This pathogenic sequence change is predicted to result in an abnormal transcript, which may be degraded, or may lead to the production of a truncated PAFAH1B1 protein with potentially abnormal function.

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