ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.2834+6A>G

gnomAD frequency: 0.00002  dbSNP: rs766369623
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000698874 SCV000827563 uncertain significance Hereditary spastic paraplegia 11 2022-02-12 criteria provided, single submitter clinical testing This sequence change falls in intron 15 of the SPG11 gene. It does not directly change the encoded amino acid sequence of the SPG11 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs766369623, 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: 576392). 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 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.
Ambry Genetics RCV003352991 SCV004076688 uncertain significance Inborn genetic diseases 2023-06-26 criteria provided, single submitter clinical testing The c.2834+6A>G intronic alteration consists of a A to G substitution 6 nucleotides after exon 15 (coding exon 15) in the SPG11 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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