ClinVar Miner

Submissions for variant NM_001278689.2(EOGT):c.1074del (p.Gly359fs)

dbSNP: rs587776994
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001091100 SCV001246955 pathogenic not provided 2019-04-01 criteria provided, single submitter clinical testing
3billion RCV000049242 SCV002012322 pathogenic Adams-Oliver syndrome 4 2021-10-02 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). The variant has been reported as pathogenic/likely pathogenic without evidence for the classification (ClinVar ID: VCV000523612.1). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
OMIM RCV000049242 SCV000077495 pathogenic Adams-Oliver syndrome 4 2013-04-04 no assertion criteria provided literature only
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre RCV000162168 SCV000196454 likely pathogenic Adams-Oliver syndrome 2014-12-01 no assertion criteria provided research

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