ClinVar Miner

Submissions for variant NC_000022.11:g.(?_41154975)_(41164150_?)del

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000812010 SCV000952308 pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency; Colorectal cancer 2018-11-08 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exons 17 to 22 of the EP300 gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV004562724 SCV001586930 pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2018-11-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in EP300 are known to be pathogenic (PMID: 15706485, 24476420). This variant has not been reported in the literature in individuals with EP300-related disease. This variant is an out-of-frame deletion of the genomic region encompassing exons 17 to 22 of the EP300 gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product.

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