ClinVar Miner

Submissions for variant NM_001371279.1(REEP1):c.417+1G>A

dbSNP: rs2104223296
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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 RCV001386861 SCV001587245 pathogenic Hereditary spastic paraplegia 31 2022-11-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1073769). Disruption of this splice site has been observed in individuals with hereditary spastic paraplegia (PMID: 18321925, 19072839). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 5 of the REEP1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in REEP1 are known to be pathogenic (PMID: 18321925, 18644145, 22703882).
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847255 SCV002104921 pathogenic Hereditary spastic paraplegia 2016-12-12 criteria provided, single submitter clinical testing

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