ClinVar Miner

Submissions for variant NM_014844.5(TECPR2):c.2128_2131del (p.Glu710fs)

dbSNP: rs1889618137
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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 RCV001205722 SCV001376992 pathogenic Hereditary spastic paraplegia 49 2019-09-25 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in TECPR2 are known to be pathogenic (PMID: 23176824, 25590979). This variant has not been reported in the literature in individuals with TECPR2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu710Tyrfs*15) in the TECPR2 gene. It is expected to result in an absent or disrupted protein product.

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