ClinVar Miner

Submissions for variant NM_014844.5(TECPR2):c.1213G>A (p.Glu405Lys)

gnomAD frequency: 0.00001  dbSNP: rs148556964
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000706786 SCV000835856 uncertain significance Hereditary spastic paraplegia 49 2022-03-18 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 405 of the TECPR2 protein (p.Glu405Lys). This variant is present in population databases (rs148556964, gnomAD 0.007%). 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: 582659). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 RCV004768595 SCV005377136 uncertain significance not provided 2023-11-20 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV000706786 SCV002088001 uncertain significance Hereditary spastic paraplegia 49 2019-11-11 no assertion criteria provided clinical testing

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