ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.2768A>G (p.Asp923Gly)

gnomAD frequency: 0.00002  dbSNP: rs772514266
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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 RCV001993424 SCV002256937 uncertain significance Hereditary spastic paraplegia 11 2021-12-02 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 923 of the SPG11 protein (p.Asp923Gly). This variant is present in population databases (rs772514266, gnomAD 0.01%). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; 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 RCV004970665 SCV005504104 uncertain significance Inborn genetic diseases 2024-12-10 criteria provided, single submitter clinical testing The c.2768A>G (p.D923G) alteration is located in exon 15 (coding exon 15) of the SPG11 gene. This alteration results from a A to G substitution at nucleotide position 2768, causing the aspartic acid (D) at amino acid position 923 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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