ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.4435-2A>G

dbSNP: rs1555450825
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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 RCV000822685 SCV000963495 pathogenic Hereditary spastic paraplegia 11 2023-06-12 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: 664569). Disruption of this splice site has been observed in individuals with hereditary spastic paraplegia (PMID: 21625935, 29691679). This variant is not present in population databases (gnomAD no frequency). This sequence change affects an acceptor splice site in intron 25 of the SPG11 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 SPG11 are known to be pathogenic (PMID: 19105190, 20110243, 22154821, 26556829).

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