ClinVar Miner

Submissions for variant NM_001079846.1(CREBBP):c.5486G>A (p.Arg1829Gln) (rs1131691326)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493961 SCV000581880 pathogenic not provided 2019-01-10 criteria provided, single submitter clinical testing The R1867Q variant in the CREBBP gene has been reported previously as a de novo variant in individuals with developmental delay and dysmorphic features previously tested at GeneDx and in the published literature (Menke et al., 2016). The R1867Q variant has also been reported as heterozygous, inheritance unknown, in an adult male with severe intellectual disability and behavior problems, who also harbored a duplication at 9q34.3 (Menke et al., 2018). Additionally, a missense variant at this same codon (R1867W) as well as missense variants in neighboring codons (R1868W, M1872V) have been reported in association with developmental delay, supporting the functional importance of this region of the protein (Menke et al., 2016; Stenson et al., 2014). The R1867Q variant is not observed in large population cohorts (Lek et al., 2016). The R1867Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. Therefore, we interpret R1867Q as a pathogenic variant,
OMIM RCV000757966 SCV000886491 pathogenic Menke-Hennekam syndrome 1 2019-02-22 no assertion criteria provided literature only

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