ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.1457-2A>G

gnomAD frequency: 0.00001  dbSNP: rs312262726
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847631 SCV002105664 pathogenic Hereditary spastic paraplegia 2018-07-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000034173 SCV002236715 pathogenic Hereditary spastic paraplegia 11 2023-08-04 criteria provided, single submitter clinical testing Studies have shown that disruption of this splice site results in skipping of exon 7 and introduces a premature termination codon (PMID: 18067136). The resulting mRNA is expected to undergo nonsense-mediated decay. ClinVar contains an entry for this variant (Variation ID: 41272). This variant is also known as c.1757-2A>G. Disruption of this splice site has been observed in individuals with hereditary spastic paraplegia (PMID: 18067136, 30778698). This variant is not present in population databases (gnomAD no frequency). This sequence change affects an acceptor splice site in intron 6 of the SPG11 gene. RNA analysis indicates that disruption of this splice site induces altered splicing and may result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV000034173 SCV002764133 pathogenic Hereditary spastic paraplegia 11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005007927 SCV005637750 likely pathogenic Amyotrophic lateral sclerosis type 5; Hereditary spastic paraplegia 11; Charcot-Marie-Tooth disease axonal type 2X 2024-03-23 criteria provided, single submitter clinical testing
GeneReviews RCV000034173 SCV000058111 not provided Hereditary spastic paraplegia 11 no assertion provided literature only

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