ClinVar Miner

Submissions for variant NM_014844.5(TECPR2):c.2323G>A (p.Gly775Arg)

gnomAD frequency: 0.00029  dbSNP: rs138725425
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000822819 SCV000963636 uncertain significance Hereditary spastic paraplegia 49 2022-08-31 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 775 of the TECPR2 protein (p.Gly775Arg). This variant is present in population databases (rs138725425, gnomAD 0.07%). This variant has not been reported in the literature in individuals affected with TECPR2-related conditions. ClinVar contains an entry for this variant (Variation ID: 664676). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
GeneDx RCV001759619 SCV001996707 uncertain significance not provided 2019-11-01 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004962862 SCV005518495 uncertain significance Inborn genetic diseases 2024-07-27 criteria provided, single submitter clinical testing The c.2323G>A (p.G775R) alteration is located in exon 9 (coding exon 8) of the TECPR2 gene. This alteration results from a G to A substitution at nucleotide position 2323, causing the glycine (G) at amino acid position 775 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000822819 SCV001456119 uncertain significance Hereditary spastic paraplegia 49 2020-09-16 no assertion criteria provided clinical testing

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