ClinVar Miner

Submissions for variant NM_001011658.4(TRAPPC2):c.91A>T (p.Lys31Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics Laboratory, Henan Provincial People's Hospital RCV003320283 SCV004023247 pathogenic Spondyloepiphyseal dysplasia tarda, X-linked 2023-07-05 no assertion criteria provided clinical testing The K31X variant was identified in two cousins of a Chinese pedigree diagnosed with spondyloepiphyseal dysplasia tarda (SEDT) based on clinical manifestations and typical X-ray findings, which led to significantly decreased TRAPPC2 mRNA expression in available peripheral blood. Additionally, In vitro functional studies indicate that the K31X variant exhibited significantly lower mRNA and protein levels and changed membrane distribution, which may have decreased COL2A1 expression and collagen II secretions. In summary, the K31X variant is classified as pathogenic based upon the ACMG criteria, segregation studies, and functional evidence.

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