ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.4076T>C (p.Met1359Thr) (rs146451611)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000710206 SCV000225020 uncertain significance not provided 2015-04-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000194599 SCV000248784 uncertain significance not specified 2014-04-04 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000515329 SCV000611517 uncertain significance Charlevoix-Saguenay spastic ataxia 2017-05-23 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710206 SCV000614954 benign not provided 2018-11-02 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000515329 SCV000915631 uncertain significance Charlevoix-Saguenay spastic ataxia 2018-11-14 criteria provided, single submitter clinical testing The SACs c.4076T>C (p.Met1359Thr) missense variant has been reported in two studies in which it is found in a total of five patients with ARSACS, including in four siblings in a compound heterozygous state and in one unrelated individual in a heterozygous state with no second variant identified (Fogel et al. 2012; Palmio et al. 2016). Palmio et al. (2016) studied a Finnish family with a milder phenotype of ARSACS that presented in early adulthood. The p.Met1359Thr variant was found in trans with a double allele containing two missense variants. The three variants together segregated with disease in four affected siblings. Based on segregation analysis, the p.Met1359Thr variant was considered a disease-causing allele. Control data are unavailable for this variant which is reported at a frequency of 0.00356 in the European (non-Finnish) population of the Exome Aggregate Consortium. Based on the evidence, the p.Met1359Thr variant is classified as a variant of unknown significance but suspicious for pathogenicity for ARSACS. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Invitae RCV001082339 SCV001001471 likely benign Spastic paraplegia 2020-12-08 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000710206 SCV001148947 pathogenic not provided 2019-07-01 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000710206 SCV001715029 uncertain significance not provided 2021-02-18 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000710206 SCV001741449 likely benign not provided no assertion criteria provided clinical testing
GeneDx RCV000710206 SCV001789197 likely benign not provided 2021-06-04 no assertion criteria provided clinical testing This variant is associated with the following publications: (PMID: 27980752)

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