ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.6737_6740del (p.Ile2246fs)

dbSNP: rs312262781
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000416215 SCV000493220 likely pathogenic not provided 2016-08-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000034248 SCV001386721 pathogenic Hereditary spastic paraplegia 11 2023-12-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile2246Serfs*15) 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). This variant is present in population databases (rs312262781, gnomAD 0.006%). This premature translational stop signal has been observed in individual(s) with hereditary spastic paraplegia (PMID: 18079167). 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. ClinVar contains an entry for this variant (Variation ID: 41347). For these reasons, this variant has been classified as Pathogenic.
AiLife Diagnostics, AiLife Diagnostics RCV000416215 SCV002502658 pathogenic not provided 2022-03-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000034248 SCV002763675 likely pathogenic Hereditary spastic paraplegia 11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496511 SCV002808795 pathogenic Amyotrophic lateral sclerosis type 5; Hereditary spastic paraplegia 11; Charcot-Marie-Tooth disease axonal type 2X 2021-07-09 criteria provided, single submitter clinical testing
GeneReviews RCV000034248 SCV000058188 not provided Hereditary spastic paraplegia 11 no assertion provided literature only

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