ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.5106C>G (p.Asn1702Lys)

dbSNP: rs762524521
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001053978 SCV001218269 uncertain significance Hereditary spastic paraplegia 11 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces asparagine with lysine at codon 1702 of the SPG11 protein (p.Asn1702Lys). The asparagine residue is weakly conserved and there is a moderate physicochemical difference between asparagine and lysine. This variant is present in population databases (rs762524521, ExAC 0.005%). This variant has not been reported in the literature in individuals affected with SPG11-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847140 SCV002105730 uncertain significance Hereditary spastic paraplegia 2017-06-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002339271 SCV002644640 uncertain significance Inborn genetic diseases 2021-10-09 criteria provided, single submitter clinical testing The p.N1702K variant (also known as c.5106C>G), located in coding exon 29 of the SPG11 gene, results from a C to G substitution at nucleotide position 5106. The asparagine at codon 1702 is replaced by lysine, an amino acid with 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.
Genome-Nilou Lab RCV002468129 SCV002763858 uncertain significance Amyotrophic lateral sclerosis type 5 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002468130 SCV002763859 uncertain significance Charcot-Marie-Tooth disease axonal type 2X criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001053978 SCV002763860 uncertain significance Hereditary spastic paraplegia 11 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV004792680 SCV005409910 uncertain significance not provided 2024-07-03 criteria provided, single submitter clinical testing BP4, PM2

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