ClinVar Miner

Submissions for variant NM_001429.4(EP300):c.7136A>G (p.Asn2379Ser)

dbSNP: rs886057571
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003004997 SCV003300299 likely benign Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 2022-06-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002996207 SCV003555787 uncertain significance Inborn genetic diseases 2021-03-18 criteria provided, single submitter clinical testing The c.7136A>G (p.N2379S) alteration is located in exon 31 (coding exon 31) of the EP300 gene. This alteration results from a A to G substitution at nucleotide position 7136, causing the asparagine (N) at amino acid position 2379 to be replaced by a serine (S). The p.N2379S alteration is predicted to be tolerated by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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