ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.4434+1G>A

dbSNP: rs1567148391
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000989300 SCV001139569 pathogenic Hereditary spastic paraplegia 11 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001311028 SCV001501050 likely pathogenic not provided 2020-08-01 criteria provided, single submitter clinical testing
Invitae RCV000989300 SCV001575281 likely pathogenic Hereditary spastic paraplegia 11 2022-04-11 criteria provided, single submitter clinical testing 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: 803073). This variant has not been reported in the literature in individuals affected with SPG11-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor 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). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Genome-Nilou Lab RCV000989300 SCV002763910 likely pathogenic Hereditary spastic paraplegia 11 criteria provided, single submitter clinical testing

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