ClinVar Miner

Submissions for variant NM_016213.5(TRIP4):c.265A>T (p.Lys89Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV002463879 SCV002754492 pathogenic Spinal muscular atrophy with congenital bone fractures 1 2022-11-17 criteria provided, single submitter clinical testing A homozygous nonsense variation in exon 2 of the TRIP4 gene that results in a stop codon and premature truncation of the protein at codon 89 was detected. The p.Lys89Ter variant has not been reported in 1000 genomes, gnomAD and in our internal databases. The in silico predictions of the variant is damaging by MutationTaster2. The reference codon is conserved across species. The reference codon is conserved across species. In summary, the variant meets our criteria to be classified as pathogenic.

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