ClinVar Miner

Submissions for variant NM_014844.5(TECPR2):c.55CTC[1] (p.Leu20del)

dbSNP: rs762675550
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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 RCV001042465 SCV001206147 uncertain significance Hereditary spastic paraplegia 49 2021-09-02 criteria provided, single submitter clinical testing This variant, c.58_60del, results in the deletion of 1 amino acid(s) of the TECPR2 protein (p.Leu20del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs762675550, ExAC 0.003%). This variant has not been reported in the literature in individuals affected with TECPR2-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. RCV001042465 SCV001456105 uncertain significance Hereditary spastic paraplegia 49 2020-09-16 no assertion criteria provided clinical testing

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