ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.10624_10625del (p.Leu3542fs)

dbSNP: rs1592123162
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV001809804 SCV002058399 pathogenic Kabuki syndrome 1 2022-01-03 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_VS). It is not observed in the gnomAD v2.1.1 dataset (PM2_M). The variant has been reported to be associated with KMT2D related disorder (ClinVar ID: VCV000638279). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
Xiao lab, Department of Pathology, Memorial Sloan Kettering Cancer Center RCV000790857 SCV000930029 likely pathogenic Lymphoma 2019-07-25 no assertion criteria provided clinical testing

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