ClinVar Miner

Submissions for variant NM_000360.4(TH):c.576G>A (p.Pro192=)

gnomAD frequency: 0.00010  dbSNP: rs201809787
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001825365 SCV000824898 uncertain significance Autosomal recessive DOPA responsive dystonia 2022-07-07 criteria provided, single submitter clinical testing This sequence change affects codon 223 of the TH mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the TH protein. This variant also falls at the last nucleotide of exon 5, which is part of the consensus splice site for this exon. This variant is present in population databases (rs201809787, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with TH-related conditions. ClinVar contains an entry for this variant (Variation ID: 574415). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV001825365 SCV002085421 uncertain significance Autosomal recessive DOPA responsive dystonia 2019-11-11 no assertion criteria provided clinical testing

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