ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.901A>G (p.Asn301Asp)

dbSNP: rs2145708100
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003416785 SCV004107626 uncertain significance EP300-related disorder 2023-06-22 criteria provided, single submitter clinical testing The EP300 c.901A>G variant is predicted to result in the amino acid substitution p.Asn301Asp. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Labcorp Genetics (formerly Invitae), Labcorp RCV003525400 SCV004277736 uncertain significance Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2023-09-21 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt EP300 protein function. This variant has not been reported in the literature in individuals affected with EP300-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 301 of the EP300 protein (p.Asn301Asp).

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