ClinVar Miner

Submissions for variant NM_032730.5(RTN4IP1):c.355_356del (p.Leu119fs)

dbSNP: rs1562156198
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001913093 SCV002169286 pathogenic not provided 2024-11-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu119Glyfs*14) in the RTN4IP1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RTN4IP1 are known to be pathogenic (PMID: 26593267). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RTN4IP1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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