ClinVar Miner

Submissions for variant NM_000360.4(TH):c.1420del (p.Ala474fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003340814 SCV004047562 likely pathogenic Autosomal recessive DOPA responsive dystonia criteria provided, single submitter clinical testing The frameshift variant c.1420del (p.Ala474ProfsTer20) in TH gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant causes a frameshift starting with codon Alanine 474, changes this amino acid to Proline residue, and creates a premature Stop codon at position 20 of the new reading frame, denoted p.Ala474ProfsTer20. The p.Ala474ProfsTer20 variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. This variant is predicted to cause loss of normal protein function. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic.

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