ClinVar Miner

Submissions for variant NM_000360.4(TH):c.90+10C>T

dbSNP: rs1554924321
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671625 SCV000796615 uncertain significance Autosomal recessive DOPA responsive dystonia 2017-12-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000671625 SCV003482818 pathogenic Autosomal recessive DOPA responsive dystonia 2022-04-05 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as 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: 555748). This variant has not been reported in the literature in individuals affected with TH-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln34*) in the TH gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TH are known to be pathogenic (PMID: 22264700, 24753243).
Fulgent Genetics, Fulgent Genetics RCV000671625 SCV005676264 likely pathogenic Autosomal recessive DOPA responsive dystonia 2024-04-11 criteria provided, single submitter clinical testing

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