ClinVar Miner

Submissions for variant NM_000360.4(TH):c.81G>T (p.Glu27Asp)

dbSNP: rs139742336
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001103468 SCV001001006 likely benign Autosomal recessive DOPA responsive dystonia 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001103468 SCV001260233 uncertain significance Autosomal recessive DOPA responsive dystonia 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Baylor Genetics RCV001103468 SCV001523142 uncertain significance Autosomal recessive DOPA responsive dystonia 2020-02-01 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV001585801 SCV001821055 uncertain significance not provided 2023-01-10 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV003928326 SCV004748905 likely benign TH-related condition 2019-06-04 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. RCV001103468 SCV001457479 likely benign Autosomal recessive DOPA responsive dystonia 2020-04-12 no assertion criteria provided clinical testing

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