ClinVar Miner

Submissions for variant NM_000360.4(TH):c.627C>G (p.Ile209Met)

gnomAD frequency: 0.00027  dbSNP: rs202149985
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000289936 SCV000369921 likely benign Autosomal recessive DOPA responsive dystonia 2018-01-13 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000289936 SCV001001447 benign Autosomal recessive DOPA responsive dystonia 2024-01-29 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000861197 SCV001146182 likely benign not provided 2018-11-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003930285 SCV004745593 likely benign TH-related disorder 2019-10-03 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. RCV000289936 SCV001452397 benign Autosomal recessive DOPA responsive dystonia 2020-04-12 no assertion criteria provided clinical testing

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