ClinVar Miner

Submissions for variant NM_000430.4(PAFAH1B1):c.817C>T (p.Arg273Ter)

dbSNP: rs121434483
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000008541 SCV000194409 pathogenic Lissencephaly due to LIS1 mutation 2013-02-08 criteria provided, single submitter clinical testing
GeneDx RCV000255710 SCV000322236 pathogenic not provided 2021-06-28 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 11754098, 27535533, 29671837, 26494205, 11115846, 9063735, 25525159, 10583396)
CeGaT Center for Human Genetics Tuebingen RCV000255710 SCV001249970 pathogenic not provided 2019-09-01 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV000008541 SCV001950076 pathogenic Lissencephaly due to LIS1 mutation 2021-07-21 criteria provided, single submitter clinical testing This variant was identified as de novo (maternity and paternity confirmed).
Invitae RCV000255710 SCV003443693 pathogenic not provided 2022-10-26 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: 8074). This premature translational stop signal has been observed in individual(s) with lissencephaly (PMID: 9063735). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg273*) 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).
OMIM RCV000008541 SCV000028749 pathogenic Lissencephaly due to LIS1 mutation 1997-02-01 no assertion criteria provided literature only

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