ClinVar Miner

Submissions for variant NM_014844.5(TECPR2):c.3294C>T (p.His1098=)

gnomAD frequency: 0.00031  dbSNP: rs144141409
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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 RCV000865491 SCV001006469 likely benign Hereditary spastic paraplegia 49 2024-12-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV000865491 SCV001460237 likely benign Hereditary spastic paraplegia 49 2020-09-16 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003928380 SCV004745459 likely benign TECPR2-related disorder 2019-09-18 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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