ClinVar Miner

Submissions for variant NM_015346.4(ZFYVE26):c.1129del (p.Cys377fs)

dbSNP: rs2140250002
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Paris Brain Institute, Inserm - ICM RCV001391578 SCV001451350 uncertain significance Spastic paraplegia criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001391578 SCV004364922 pathogenic Spastic paraplegia 2023-12-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys377Alafs*4) in the ZFYVE26 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ZFYVE26 are known to be pathogenic (PMID: 18394578, 19805727). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ZFYVE26-related conditions. ClinVar contains an entry for this variant (Variation ID: 989172). For these reasons, this variant has been classified as Pathogenic.

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