ClinVar Miner

Submissions for variant NM_138927.4(SON):c.1881_1882del (p.Val629fs)

dbSNP: rs1569053308
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV000755175 SCV005904184 pathogenic ZTTK syndrome 2024-01-12 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Predicted Consequence/Location: 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. The variant has been reported to be associated with SON related disorder (ClinVar ID: VCV000617860 /PMID: 27545680). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline.
University of Washington Center for Mendelian Genomics, University of Washington RCV000755175 SCV000883001 likely pathogenic ZTTK syndrome 2016-09-01 no assertion criteria provided research

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