ClinVar Miner

Submissions for variant NM_000360.4(TH):c.241G>A (p.Val81Met)

gnomAD frequency: 0.31555  dbSNP: rs6356
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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000241867 SCV000317145 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000021078 SCV000369930 benign Autosomal recessive DOPA responsive dystonia 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Athena Diagnostics RCV000710270 SCV000677519 benign not provided 2017-04-14 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000021078 SCV000745021 benign Autosomal recessive DOPA responsive dystonia 2015-09-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000021078 SCV001725244 benign Autosomal recessive DOPA responsive dystonia 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000021078 SCV001754956 benign Autosomal recessive DOPA responsive dystonia 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV000710270 SCV001855729 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29724574, 26732803, 22560290)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000241867 SCV002050745 likely benign not specified 2021-12-03 criteria provided, single submitter clinical testing
Center for Forensic Mental Health, Chiba University RCV003633482 SCV004543737 benign Schizophrenia criteria provided, single submitter case-control
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000241867 SCV005091897 benign not specified 2024-07-31 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 71% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy, Progressive Myoclonus Epilepsy and Abnormal Movements and Neurodegeneration with brain iron accumulation. Number of patients: 66. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV000710270 SCV005223159 likely benign not provided criteria provided, single submitter not provided
GeneReviews RCV000021078 SCV000041738 not provided Autosomal recessive DOPA responsive dystonia no assertion provided literature only
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000021078 SCV000745786 benign Autosomal recessive DOPA responsive dystonia 2015-02-07 no assertion criteria provided clinical testing
Natera, Inc. RCV000021078 SCV001463823 benign Autosomal recessive DOPA responsive dystonia 2020-09-16 no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000241867 SCV001957750 benign not specified no assertion criteria provided clinical testing

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