ClinVar Miner

Submissions for variant NM_199292.3(TH):c.376del (p.Ala126fs) (rs797045111)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000190632 SCV000245671 pathogenic Segawa syndrome, autosomal recessive 2014-08-28 criteria provided, single submitter clinical testing The Ala95ArgfsX6 variant in TH has not been previously reported in individuals with disease and data from large population studies is insufficient to assess the frequency of this variant. However, this frameshift variant is predicted to alter the protein’s amino acid sequence beginning at position 95 and lead to a premature termination codon 6 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. Loss of function variants in the TH gene have been associated with autosomal recessive Segawa syndrome. In summary, this variant meets our criteria to be classified as pathogenic for this disorder.

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