ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.1467G>T (p.Lys489Asn)

dbSNP: rs769024926
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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 RCV003414419 SCV004106885 uncertain significance EP300-related disorder 2023-09-11 criteria provided, single submitter clinical testing The EP300 c.1467G>T variant is predicted to result in the amino acid substitution p.Lys489Asn. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/22-41527576-G-T). 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 RCV003638948 SCV004533580 likely benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2023-04-01 criteria provided, single submitter clinical testing

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