ClinVar Miner

Submissions for variant NM_015972.4(POLR1D):c.60dup (p.Gly21fs)

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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 RCV002474262 SCV002770427 likely pathogenic Treacher Collins syndrome 2 2022-01-12 criteria provided, single submitter clinical testing
3billion RCV002474262 SCV003841791 likely pathogenic Treacher Collins syndrome 2 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 protein truncation. The predicted truncated protein may be shortened by more than 10%. Therefore, this variant is classified as Likely pathogenic according to the recommendation of ACMG/AMP guideline.

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