ClinVar Miner

Submissions for variant NM_000430.4(PAFAH1B1):c.1018dup (p.Trp340fs)

dbSNP: rs797045855
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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 RCV000194197 SCV000248422 pathogenic Lissencephaly due to LIS1 mutation 2013-02-08 criteria provided, single submitter clinical testing
Invitae RCV003556246 SCV004296455 pathogenic not provided 2023-08-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 211818). This variant is also known as 1018insT. This premature translational stop signal has been observed in individual(s) with lissencephaly (PMID: 9817918). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp340Leufs*19) in the PAFAH1B1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PAFAH1B1 are known to be pathogenic (PMID: 1671808, 11115846, 14581661).

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