ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.861+1G>C

gnomAD frequency: 0.00001  dbSNP: rs1412575396
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV000761358 SCV000891344 likely pathogenic Hereditary spastic paraplegia 7 2017-06-22 criteria provided, single submitter clinical testing
Invitae RCV000761358 SCV003027959 pathogenic Hereditary spastic paraplegia 7 2022-02-19 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.002%). 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: 623233). Disruption of this splice site has been observed in individuals with hereditary spastic paraplegia (PMID: 31433872; Invitae). This sequence change affects a donor splice site in intron 6 of the SPG7 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 SPG7 are known to be pathogenic (PMID: 21623769, 22964162).

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