ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.955G>A (p.Val319Ile)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003639249 SCV004550073 benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2023-04-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV004981007 SCV005579103 likely benign Inborn genetic diseases 2024-11-29 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.
PreventionGenetics, part of Exact Sciences RCV004738874 SCV005345426 uncertain significance EP300-related disorder 2024-05-02 no assertion criteria provided clinical testing The EP300 c.955G>A variant is predicted to result in the amino acid substitution p.Val319Ile. To our knowledge, this variant has not been reported in the literature in individuals with EP300-related disorders. This variant is reported in 0.023% of alleles in individuals of African descent in gnomAD. 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.

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