ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.2626A>G (p.Lys876Glu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002426434 SCV002744648 uncertain significance Inborn genetic diseases 2021-03-28 criteria provided, single submitter clinical testing The p.K876E variant (also known as c.2626A>G), located in coding exon 15 of the SPG11 gene, results from an A to G substitution at nucleotide position 2626. The lysine at codon 876 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003495305 SCV004277556 likely benign Hereditary spastic paraplegia 11 2024-04-01 criteria provided, single submitter clinical testing

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