ClinVar Miner

Submissions for variant NM_015346.4(ZFYVE26):c.2625del (p.Glu875_Val876insTer)

dbSNP: rs1555398241
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669461 SCV000794215 likely pathogenic Hereditary spastic paraplegia 15 2017-09-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003588665 SCV004344472 pathogenic Spastic paraplegia 2023-06-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 553921). This variant has not been reported in the literature in individuals affected with ZFYVE26-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Val876*) 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).
Fulgent Genetics, Fulgent Genetics RCV000669461 SCV005633486 likely pathogenic Hereditary spastic paraplegia 15 2024-03-21 criteria provided, single submitter clinical testing

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