ClinVar Miner

Submissions for variant NM_014844.5(TECPR2):c.3275C>T (p.Ser1092Leu)

gnomAD frequency: 0.00388  dbSNP: rs72700618
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000204784 SCV000262334 likely benign Hereditary spastic paraplegia 49 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001573949 SCV000730150 likely benign not provided 2019-07-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001573949 SCV001961472 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing TECPR2: BS2
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847942 SCV002105941 likely benign Hereditary spastic paraplegia 2020-07-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002517387 SCV003678576 likely benign Inborn genetic diseases 2022-05-02 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.
PreventionGenetics, part of Exact Sciences RCV003967560 SCV004778756 likely benign TECPR2-related disorder 2020-09-11 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).
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573949 SCV001800556 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001573949 SCV001922110 likely benign not provided no assertion criteria provided clinical testing
Natera, Inc. RCV000204784 SCV002091144 benign Hereditary spastic paraplegia 49 2019-12-10 no assertion criteria provided clinical testing

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