ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.1269dup (p.Val424fs)

dbSNP: rs2132013817
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001385118 SCV001584865 pathogenic not provided 2018-05-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val424Cysfs*14) in the IKBKAP gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with IKBKAP-related disease. Loss-of-function variants in IKBKAP are known to be pathogenic (PMID: 18303054). For these reasons, this variant has been classified as Pathogenic.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV004557582 SCV005046974 likely pathogenic Medulloblastoma 2024-06-04 criteria provided, single submitter clinical testing

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