ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.6585G>A (p.Pro2195=)

gnomAD frequency: 0.00001  dbSNP: rs1206211976
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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 RCV000691677 SCV000819466 uncertain significance Hereditary spastic paraplegia 11 2024-11-15 criteria provided, single submitter clinical testing This sequence change affects codon 2195 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 also falls at the last nucleotide of exon 35, which is part of the consensus splice site for this exon. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 570743). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus 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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