ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.5926C>T (p.Pro1976Ser)

gnomAD frequency: 0.00001  dbSNP: rs1427345303
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001593506 SCV001816536 likely benign not provided 2020-09-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005023208 SCV005663851 uncertain significance Rubinstein-Taybi syndrome due to EP300 haploinsufficiency; Colorectal cancer; Menke-Hennekam syndrome 2 2024-06-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV005330896 SCV005994709 uncertain significance Inborn genetic diseases 2025-02-20 criteria provided, single submitter clinical testing The c.5926C>T (p.P1976S) alteration is located in exon 31 (coding exon 31) of the EP300 gene. This alteration results from a C to T substitution at nucleotide position 5926, causing the proline (P) at amino acid position 1976 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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