ClinVar Miner

Submissions for variant NM_000430.4(PAFAH1B1):c.337C>T (p.Arg113Ter)

dbSNP: rs886041341
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000276564 SCV000329812 pathogenic not provided 2016-09-26 criteria provided, single submitter clinical testing The R113X nonsense variant in the PAFAH1B1 gene has been reported previously in an individual with lissencephaly (Saillour et al., 2009). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay.
CeGaT Center for Human Genetics Tuebingen RCV000276564 SCV001248770 pathogenic not provided 2019-08-01 criteria provided, single submitter clinical testing
Invitae RCV000276564 SCV003443719 pathogenic not provided 2022-11-30 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: 280047). This premature translational stop signal has been observed in individual(s) with lissencephaly (PMID: 19667223). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg113*) 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).
Institute of Human Genetics, University of Leipzig Medical Center RCV003448294 SCV004176015 pathogenic Lissencephaly due to LIS1 mutation 2023-11-07 criteria provided, single submitter clinical testing Criteria applied: PVS1,PS2_MOD,PS4_MOD,PM2_SUP

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