ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.1453C>A (p.Gln485Lys)

gnomAD frequency: 0.00001  dbSNP: rs772407988
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000730042 SCV000857750 uncertain significance not provided 2017-11-13 criteria provided, single submitter clinical testing
GeneDx RCV000730042 SCV001778554 likely benign not provided 2019-10-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003908036 SCV004722035 uncertain significance EP300-related disorder 2023-12-29 criteria provided, single submitter clinical testing The EP300 c.1453C>A variant is predicted to result in the amino acid substitution p.Gln485Lys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0087% of alleles in individuals of Latino 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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