ClinVar Miner

Submissions for variant NM_001371623.1(TCOF1):c.4369_4372del (p.Glu1457fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Molecular Genetics Department, National Research Center RCV002474265 SCV002770430 likely pathogenic Treacher Collins syndrome 1 2022-01-12 criteria provided, single submitter clinical testing
3billion, Medical Genetics RCV002474265 SCV003841618 pathogenic Treacher Collins syndrome 1 2023-02-23 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. This variant was predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been reported to be associated with TCOF1 related disorder (PMID: 22317976). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline.

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