ClinVar Miner

Submissions for variant NM_014844.5(TECPR2):c.3704G>A (p.Gly1235Asp)

dbSNP: rs1890527067
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001296297 SCV001485256 uncertain significance Hereditary spastic paraplegia 49 2020-12-14 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with aspartic acid at codon 1235 of the TECPR2 protein (p.Gly1235Asp). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and aspartic acid. 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. 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"). This variant has not been reported in the literature in individuals with TECPR2-related conditions.

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