ClinVar Miner

Submissions for variant NM_000360.4(TH):c.977+1G>A

dbSNP: rs1057516736
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410635 SCV000486139 likely pathogenic Autosomal recessive DOPA responsive dystonia 2016-04-05 criteria provided, single submitter clinical testing
Baylor Genetics RCV000410635 SCV004203873 likely pathogenic Autosomal recessive DOPA responsive dystonia 2023-04-22 criteria provided, single submitter clinical testing
Invitae RCV000410635 SCV004559724 likely pathogenic Autosomal recessive DOPA responsive dystonia 2023-03-26 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 370745). Disruption of this splice site has been observed in individual(s) with dopa-responsive dystonia (DRD)-plus (PMID: 32185155). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 9 of the TH gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in TH are known to be pathogenic (PMID: 22264700, 24753243).

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