ClinVar Miner

Submissions for variant NM_014844.5(TECPR2):c.754C>A (p.Gln252Lys)

gnomAD frequency: 0.00061  dbSNP: rs147010113
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Natera, Inc. RCV001277538 SCV001464498 likely benign Hereditary spastic paraplegia 49 2020-04-16 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003938593 SCV004760269 likely benign TECPR2-related disorder 2024-03-05 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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