ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.7326del (p.Gly2443fs)

gnomAD frequency: 0.00001  dbSNP: rs751228307
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000642542 SCV000764228 uncertain significance Hereditary spastic paraplegia 11 2021-07-13 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the SPG11 gene (p.Gly2443Valfs*3). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 1 amino acid(s) of the SPG11 protein and extend the protein by 1 additional amino acid residues. This variant is present in population databases (rs751228307, ExAC 0.001%). This variant has not been reported in the literature in individuals affected with SPG11-related conditions. 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.
Ambry Genetics RCV002386068 SCV002671052 uncertain significance Inborn genetic diseases 2019-09-30 criteria provided, single submitter clinical testing The c.7326delA variant, located in coding exon 40 of the SPG11 gene, results from a deletion of one nucleotide at nucleotide position 7326, causing a translational frameshift with a predicted alternate stop codon (p.G2443Vfs*3). This frameshift occurs at the 3' terminus of SPG11, is not expected to trigger nonsense-mediated mRNA decay, and results in the elongation of the protein by one amino acid. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002499083 SCV002783052 uncertain significance Amyotrophic lateral sclerosis type 5; Hereditary spastic paraplegia 11; Charcot-Marie-Tooth disease axonal type 2X 2021-11-19 criteria provided, single submitter clinical testing

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