ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.4103C>T (p.Thr1368Met)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005017236 SCV005645898 uncertain significance Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1 2024-02-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005103686 SCV005828048 benign Rubinstein-Taybi syndrome 2024-06-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004742736 SCV005343240 uncertain significance CREBBP-related disorder 2024-09-07 no assertion criteria provided clinical testing The CREBBP c.4103C>T variant is predicted to result in the amino acid substitution p.Thr1368Met. This variant was reported in an individual with acute lymphoblastic leukaemia (described as p.Thr1330Met, Table S1, de Smith et al. 2019. PubMed ID: 31102422). This variant is reported in 0.0050% of alleles in individuals of East Asian 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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