ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.6696C>T (p.Gly2232=)

gnomAD frequency: 0.00001  dbSNP: rs758000490
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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 RCV000642534 SCV000764219 uncertain significance Hereditary spastic paraplegia 11 2022-04-17 criteria provided, single submitter clinical testing This sequence change affects codon 2232 of the SPG11 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the SPG11 protein. This variant is present in population databases (rs758000490, 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: 534839). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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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