ClinVar Miner

Submissions for variant NM_014844.5(TECPR2):c.1397AGA[7] (p.Lys471dup)

dbSNP: rs572609303
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519435 SCV000618257 likely benign not provided 2021-10-04 criteria provided, single submitter clinical testing In-frame duplication of 1 amino acid in a repetitive region with no known function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001081641 SCV001002063 likely benign Hereditary spastic paraplegia 49 2025-01-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848912 SCV002105911 likely benign Hereditary spastic paraplegia 2019-09-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001081641 SCV002088008 benign Hereditary spastic paraplegia 49 2019-09-25 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003900089 SCV004718866 likely benign TECPR2-related disorder 2022-04-21 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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