ClinVar Miner

Submissions for variant NM_014844.5(TECPR2):c.623C>T (p.Thr208Ile)

gnomAD frequency: 0.00140  dbSNP: rs144870163
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000548770 SCV000652479 likely benign Hereditary spastic paraplegia 49 2024-11-07 criteria provided, single submitter clinical testing
Baylor Genetics RCV000548770 SCV001522278 uncertain significance Hereditary spastic paraplegia 49 2019-05-15 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV004777733 SCV005388035 uncertain significance not provided 2024-03-26 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV003915605 SCV004733954 likely benign TECPR2-related disorder 2022-03-28 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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