ClinVar Miner

Submissions for variant NM_001371623.1(TCOF1):c.2142+1del

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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 RCV001263487 SCV001429637 pathogenic Treacher Collins syndrome 1 2020-07-14 criteria provided, single submitter clinical testing A heterozygous single base pair deletion in exon 13 of the TCOF1 gene that results in a frameshift and premature truncation of the protein 10 amino acids downstream to codon 715 was detected. The observed variant c.2142delG (p.Ala715GlnfsTer10) has not been reported in the 1000 genomes and gnomAD databases. The in silico prediction of the variant is damaging by MutationTaster2. The reference region is conserved across mammals. In summary, the variant meets our criteria to be classified as pathogenic.

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