ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.1150T>G (p.Ser384Ala)

gnomAD frequency: 0.00001  dbSNP: rs377368037
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002515852 SCV003287423 benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2023-05-22 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV003415911 SCV004113204 uncertain significance EP300-related condition 2023-10-06 criteria provided, single submitter clinical testing The EP300 c.1150T>G variant is predicted to result in the amino acid substitution p.Ser384Ala. To our knowledge, this variant has not been reported in the literature in association with EP300-related disease. Of note, this variant was reported in healthy individuals per a genome sequencing study (Supplementary Table S1, Bodian et al. 2014. PubMed ID: 24728327). This variant is reported in 0.0094% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/22-41523734-T-G). This variant has been interpreted as benign in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/134063/). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
ITMI RCV000120732 SCV000084895 not provided not specified 2013-09-19 no assertion provided reference population

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