ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.102_103CT[1] (p.Ser35fs) (rs886037664)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000125469 SCV000992762 pathogenic Rubinstein-Taybi syndrome 2 2017-12-31 criteria provided, single submitter clinical testing
GeneDx RCV001175122 SCV001335548 pathogenic not provided 2020-05-20 criteria provided, single submitter clinical testing Observed de novo without confirmed parentage in two patients with multiple anomalies, microcephaly, dysmorphic features, and global developmental delay (Woods et al., 2014; Hamilton et al., 2016). De novo variant with confirmed parentage in a patient with intellectual disability, short stature, and feeding difficulties previously tested at GeneDx. Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease. Not observed in large population cohorts (Lek et al., 2016). We interpret c.104_107delCTCT as a pathogenic variant.
OMIM RCV000125469 SCV000168921 pathogenic Rubinstein-Taybi syndrome 2 2014-01-01 no assertion criteria provided literature only
Wessex Regional Genetics Laboratory,Salisbury District Hospital RCV000125469 SCV001189985 pathogenic Rubinstein-Taybi syndrome 2 2019-11-05 no assertion criteria provided clinical testing

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