ClinVar Miner

Submissions for variant NM_014844.5(TECPR2):c.541A>G (p.Ser181Gly)

gnomAD frequency: 0.00001  dbSNP: rs200469835
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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 RCV000702995 SCV000831874 uncertain significance Hereditary spastic paraplegia 49 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces serine with glycine at codon 181 of the TECPR2 protein (p.Ser181Gly). The serine residue is moderately conserved and there is a small physicochemical difference between serine and glycine. This variant is present in population databases (rs200469835, ExAC 0.06%). 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 (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.
Natera, Inc. RCV000702995 SCV001461363 uncertain significance Hereditary spastic paraplegia 49 2020-04-16 no assertion criteria provided clinical testing

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