ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.2542-1G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV001808916 SCV002059172 pathogenic Koolen-de Vries syndrome 2022-01-03 criteria provided, single submitter clinical testing The variant has been reported to be associated with KANSL1 related disorder (3billion dataset). Canonical splice site: predicted to alter splicing and result in a loss or disruption of normal protein function through protein truncation. Multiple pathogenic variants are reported in the predicted truncated region (PVS1_VS). It is not observed in the gnomAD v2.1.1 dataset (PM2_M).Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.

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