ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.7169dup (p.Thr2391fs)

dbSNP: rs2140908233
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001878388 SCV002122069 uncertain significance Hereditary spastic paraplegia 11 2021-12-02 criteria provided, single submitter clinical testing 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. This variant disrupts a region of the SPG11 protein in which other variant(s) (p.Asn2397Thr) have been observed in individuals with SPG11-related conditions (PMID: 32989326). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with SPG11-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Thr2391Tyrfs*2) in the SPG11 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 53 amino acid(s) of the SPG11 protein.

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