ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.6932_6933insGTT (p.Thr2311_Met2312insLeu)

gnomAD frequency: 0.00004  dbSNP: rs747133152
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000196399 SCV000255133 uncertain significance Hereditary spastic paraplegia 11 2022-05-29 criteria provided, single submitter clinical testing This variant, c.6932_6933insGTT, results in the insertion of 1 amino acid(s) of the SPG11 protein (p.Thr2311_Met2312insLeu), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs747133152, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with SPG11-related conditions. ClinVar contains an entry for this variant (Variation ID: 216773). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Mayo Clinic Laboratories, Mayo Clinic RCV001507873 SCV001713694 uncertain significance not provided 2021-01-20 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002467664 SCV002763600 uncertain significance Amyotrophic lateral sclerosis type 5 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002467665 SCV002763611 uncertain significance Charcot-Marie-Tooth disease axonal type 2X criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000196399 SCV002763622 uncertain significance Hereditary spastic paraplegia 11 criteria provided, single submitter clinical testing
GeneDx RCV001507873 SCV005380027 uncertain significance not provided 2023-12-26 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In-frame insertion of 1 amino acid in a non-repeat region; Has not been previously published as pathogenic or benign to our knowledge

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