ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.3070_3074del (p.Lys1024fs)

dbSNP: rs1555909697
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000576254 SCV000677000 pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2017-07-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys1024Glyfs*63) in the EP300 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with EP300-related disease. Loss-of-function variants in EP300 are known to be pathogenic (PMID: 15706485, 24476420). For these reasons, this variant has been classified as Pathogenic.

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