ClinVar Miner

Submissions for variant NM_000360.4(TH):c.1398C>T (p.Ile466=)

gnomAD frequency: 0.00056  dbSNP: rs118175546
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001106346 SCV001001499 likely benign Autosomal recessive DOPA responsive dystonia 2024-01-27 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001106346 SCV001263405 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.
CeGaT Center for Human Genetics Tuebingen RCV001310942 SCV001500937 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing TH: BP4, BP7
GeneDx RCV001310942 SCV002074091 likely benign not provided 2021-04-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003975370 SCV004786398 likely benign TH-related condition 2024-01-02 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).
Natera, Inc. RCV001106346 SCV001452382 likely benign Autosomal recessive DOPA responsive dystonia 2020-04-11 no assertion criteria provided clinical testing

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