ClinVar Miner

Submissions for variant NM_032730.5(RTN4IP1):c.804dup (p.Pro269fs)

dbSNP: rs780798399
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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 RCV001993178 SCV002228022 pathogenic not provided 2023-10-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro269Thrfs*3) 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 present in population databases (rs780798399, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with RTN4IP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1451258). For these reasons, this variant has been classified as Pathogenic.

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