ClinVar Miner

Submissions for variant NM_014844.5(TECPR2):c.4033G>A (p.Ala1345Thr)

gnomAD frequency: 0.00051  dbSNP: rs77170608
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000862938 SCV001003515 benign Hereditary spastic paraplegia 49 2024-02-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001849164 SCV002105955 uncertain significance Hereditary spastic paraplegia 2022-01-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002064460 SCV002497734 likely benign not provided 2022-01-01 criteria provided, single submitter clinical testing
GeneDx RCV002064460 SCV003914868 uncertain significance not provided 2022-10-05 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV003908182 SCV004720008 benign TECPR2-related condition 2019-11-26 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV000862938 SCV001454405 uncertain significance Hereditary spastic paraplegia 49 2020-04-17 no assertion criteria provided clinical testing

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