ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.7255_7256dup (p.Phe2420fs)

gnomAD frequency: 0.00001  dbSNP: rs532737377
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000658709 SCV000780495 uncertain significance not provided 2018-03-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002534295 SCV002935881 uncertain significance Hereditary spastic paraplegia 11 2022-02-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe2420Serfs*6) in the SPG11 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 24 amino acid(s) of the SPG11 protein. This variant is present in population databases (rs532737377, gnomAD 0.003%). 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: 546750). 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.

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