ClinVar Miner

Submissions for variant NM_000047.3(ARSL):c.1158del (p.Ile387fs)

dbSNP: rs2089231699
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002240261 SCV001220497 pathogenic Chondrodysplasia punctata, brachytelephalangic, autosomal 2019-12-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile387Serfs*18) in the ARSE gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ARSE are known to be pathogenic (PMID: 9497243, 23470839). This variant has not been reported in the literature in individuals with ARSE-related conditions. This variant is not present in population databases (ExAC no frequency).

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