ClinVar Miner

Submissions for variant NM_014844.5(TECPR2):c.2875C>T (p.Arg959Trp)

gnomAD frequency: 0.00002  dbSNP: rs762185786
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848257 SCV002105935 uncertain significance Hereditary spastic paraplegia 2020-01-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002034748 SCV002283882 uncertain significance Hereditary spastic paraplegia 49 2021-09-17 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 959 of the TECPR2 protein (p.Arg959Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs762185786, ExAC 0.002%). This variant has not been reported in the literature in individuals with TECPR2-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: "Probably 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.

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