ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.6461A>G (p.Glu2154Gly)

dbSNP: rs771827244
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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 RCV001366500 SCV001562802 uncertain significance Hereditary spastic paraplegia 11 2020-08-14 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with glycine at codon 2154 of the SPG11 protein (p.Glu2154Gly). The glutamic acid residue is moderately conserved and there is a moderate physicochemical difference between glutamic acid and glycine. This variant is present in population databases (rs771827244, ExAC 0.002%). This variant has not been reported in the literature in individuals with SPG11-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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 RCV004968135 SCV005504079 uncertain significance Inborn genetic diseases 2024-07-02 criteria provided, single submitter clinical testing The c.6461A>G (p.E2154G) alteration is located in exon 34 (coding exon 34) of the SPG11 gene. This alteration results from a A to G substitution at nucleotide position 6461, causing the glutamic acid (E) at amino acid position 2154 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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