ClinVar Miner

Submissions for variant NM_000360.4(TH):c.312+1G>A

dbSNP: rs1554923802
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671082 SCV000796024 likely pathogenic Autosomal recessive DOPA responsive dystonia 2017-11-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000671082 SCV000893187 likely pathogenic Autosomal recessive DOPA responsive dystonia 2018-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000671082 SCV002260991 likely pathogenic Autosomal recessive DOPA responsive dystonia 2021-06-16 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, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with TH-related conditions. ClinVar contains an entry for this variant (Variation ID: 555288). This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 3 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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