ClinVar Miner

Submissions for variant NM_001371623.1(TCOF1):c.2629_2648del (p.Ser877fs)

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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 RCV004547192 SCV005042540 likely pathogenic Treacher Collins syndrome 1 criteria provided, single submitter clinical testing The frameshift c.2629_2648delp.Ser877AlafsTer48 variant in TCOF1 gene has not been reported previously as a pathogenic variant nor a benign variant, to our knowledge. The p.Ser877AlafsTer48 variant is novel not in any individuals in gnomAD Exomes and 1000 Genomes. This variant has not been reported to the ClinVar database. This variant causes a frameshift starting with codon Serine 877, changes this amino acid to Alanine residue, and creates a premature Stop codon at position 48 of the new reading frame, denoted p.Ser877AlafsTer48. This variant is predicted to cause loss of normal protein function through protein truncation. 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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