ClinVar Miner

Submissions for variant NM_014844.5(TECPR2):c.1644T>G (p.Asn548Lys)

gnomAD frequency: 0.00114  dbSNP: rs72700613
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000476070 SCV000548751 likely benign Hereditary spastic paraplegia 49 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000498170 SCV000589925 likely benign not specified 2017-12-28 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848808 SCV002105919 likely benign Hereditary spastic paraplegia 2019-05-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001573137 SCV004135224 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing TECPR2: BP1, BP4
PreventionGenetics, part of Exact Sciences RCV003972758 SCV004789113 likely benign TECPR2-related disorder 2022-12-15 criteria provided, single submitter 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).
Ambry Genetics RCV004022706 SCV004963784 likely benign Inborn genetic diseases 2022-04-08 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573137 SCV001798541 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001573137 SCV001973299 likely benign not provided no assertion criteria provided clinical testing
Natera, Inc. RCV000476070 SCV002091110 benign Hereditary spastic paraplegia 49 2019-10-21 no assertion criteria provided clinical testing
GenomeConnect - Brain Gene Registry RCV000476070 SCV003931200 not provided Hereditary spastic paraplegia 49 no assertion provided phenotyping only Variant classified as Uncertain significance and reported on 06-22-2017 by GeneDx. Assertions are reported exactly as they appear on the patient provided laboratory report. GenomeConnect does not attempt to reinterpret the variant. The IDDRC-CTSA National Brain Gene Registry (BGR) is a study funded by the U.S. National Center for Advancing Translational Sciences (NCATS) and includes 13 Intellectual and Developmental Disability Research Center (IDDRC) institutions. The study is led by Principal Investigator Dr. Philip Payne from Washington University. The BGR is a data commons of gene variants paired with subject clinical information. This database helps scientists learn more about genetic changes and their impact on the brain and behavior. Participation in the Brain Gene Registry requires participation in GenomeConnect. More information about the Brain Gene Registry can be found on the study website - https://braingeneregistry.wustl.edu/.

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