ClinVar Miner

Submissions for variant NM_015443.4(KANSL1):c.3011del (p.Pro1004fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV001779379 SCV002014718 uncertain significance Koolen-de Vries syndrome 2021-10-25 criteria provided, single submitter clinical testing Frameshift: 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 (PVS1). It is not observed in the gnomAD v2.1.1 dataset (PM2). Therefore, this variant is classified as likley pathogenic according to the recommendation of ACMG/AMP guideline.

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