ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.214C>A (p.Gln72Lys)

gnomAD frequency: 0.00001  dbSNP: rs539635560
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002543882 SCV003240912 likely benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2023-02-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV003355525 SCV004070452 likely benign Inborn genetic diseases 2023-07-20 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
O&I group, Department of Genetics, University Medical Center of Groningen RCV001849226 SCV001960871 uncertain significance Autosomal dominant cerebellar ataxia 2021-07-22 no assertion criteria provided research
PreventionGenetics, part of Exact Sciences RCV003968520 SCV004779752 uncertain significance EP300-related disorder 2024-02-23 no assertion criteria provided clinical testing The EP300 c.214C>A variant is predicted to result in the amino acid substitution p.Gln72Lys. This variant has been reported as a variant of uncertain significance in a cohort study of spinocerebellar ataxia (Ghorbani et al. 2022. PubMed ID: 35401678). This variant is reported in 0.0070% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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