ClinVar Miner

Submissions for variant NM_000360.4(TH):c.1368C>T (p.Ser456=)

gnomAD frequency: 0.00023  dbSNP: rs45538536
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000276721 SCV000369909 uncertain significance 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000276721 SCV000751694 benign Autosomal recessive DOPA responsive dystonia 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001729518 SCV002512977 likely benign not provided 2021-05-26 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
CeGaT Center for Human Genetics Tuebingen RCV001729518 SCV002544483 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing TH: BP4, BP7
Natera, Inc. RCV000276721 SCV001459702 benign Autosomal recessive DOPA responsive dystonia 2020-09-16 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001729518 SCV001978710 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001729518 SCV001980511 likely benign not provided no assertion criteria provided clinical testing

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