ClinVar Miner

Submissions for variant NM_014844.5(TECPR2):c.2876G>A (p.Arg959Gln)

gnomAD frequency: 0.00001  dbSNP: rs763118922
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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 RCV000685587 SCV000813072 uncertain significance Hereditary spastic paraplegia 49 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 959 of the TECPR2 protein (p.Arg959Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs763118922, ExAC 0.02%). This variant has not been reported in the literature in individuals affected 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"). 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.
Natera, Inc. RCV000685587 SCV002091135 uncertain significance Hereditary spastic paraplegia 49 2019-11-11 no assertion criteria provided clinical testing

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