ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.2874A>C (p.Glu958Asp)

gnomAD frequency: 0.00046  dbSNP: rs140164220
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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 RCV000528211 SCV000642225 benign Hereditary spastic paraplegia 11 2025-01-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002438391 SCV002745934 uncertain significance Inborn genetic diseases 2021-08-30 criteria provided, single submitter clinical testing The p.E958D variant (also known as c.2874A>C), located in coding exon 16 of the SPG11 gene, results from an A to C substitution at nucleotide position 2874. The glutamic acid at codon 958 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV003238770 SCV003936641 uncertain significance not provided 2024-10-02 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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