ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.5148dup (p.His1717fs)

dbSNP: rs1422477670
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001233912 SCV001406527 pathogenic Hereditary spastic paraplegia 11 2023-01-03 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 960397). This premature translational stop signal has been observed in individual(s) with hereditary spastic paraplegia (HSP) (PMID: 27544499; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.His1717Thrfs*3) in the SPG11 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SPG11 are known to be pathogenic (PMID: 19105190, 20110243, 22154821, 26556829). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005012652 SCV005637881 pathogenic Amyotrophic lateral sclerosis type 5; Hereditary spastic paraplegia 11; Charcot-Marie-Tooth disease axonal type 2X 2024-06-17 criteria provided, single submitter clinical testing
Genomics England Pilot Project, Genomics England RCV001233912 SCV001760345 likely pathogenic Hereditary spastic paraplegia 11 no assertion criteria provided clinical testing

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