ClinVar Miner

Submissions for variant NM_139058.3(ARX):c.1471dup (p.Leu491fs)

dbSNP: rs797045292
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000195080 SCV000246553 pathogenic X-linked lissencephaly with abnormal genitalia 2014-11-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001815243 SCV002063301 pathogenic not provided 2021-11-01 criteria provided, single submitter clinical testing
GeneDx RCV001815243 SCV004036868 likely pathogenic not provided 2023-09-21 criteria provided, single submitter clinical testing Frameshift variant in the C-terminus predicted to result in protein truncation, as the last 72 amino acids are lost and replaced with 40 incorrect amino acids; Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 21426321)

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