ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.2444+1G>C

dbSNP: rs312262743
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000034191 SCV001139570 pathogenic Hereditary spastic paraplegia 11 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV000034191 SCV004296960 pathogenic Hereditary spastic paraplegia 11 2023-07-01 criteria provided, single submitter clinical testing Disruption of this splice site has been observed in individual(s) with hereditary spastic paraplegia (PMID: 19105190, 34782662). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. 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: 41290). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 13 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).
GeneReviews RCV000034191 SCV000058129 not provided Hereditary spastic paraplegia 11 no assertion provided literature only

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