ClinVar Miner

Submissions for variant NM_014844.5(TECPR2):c.2955del (p.Val986fs)

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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 RCV002996804 SCV003314830 pathogenic Hereditary spastic paraplegia 49 2022-02-05 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with TECPR2-related conditions. For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Val986Serfs*3) in the TECPR2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TECPR2 are known to be pathogenic (PMID: 23176824, 25590979).

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