ClinVar Miner

Submissions for variant NM_004380.3(CREBBP):c.5837C>A (p.Pro1946Gln)

dbSNP: rs765600316
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002233339 SCV000829245 benign Rubinstein-Taybi syndrome 2023-11-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002352188 SCV002648333 uncertain significance Inborn genetic diseases 2017-10-13 criteria provided, single submitter clinical testing The p.P1946Q variant (also known as c.5837C>A), located in coding exon 31 of the CREBBP gene, results from a C to A substitution at nucleotide position 5837. The proline at codon 1946 is replaced by glutamine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002485719 SCV002780421 uncertain significance Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1 2021-12-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003420244 SCV004117967 uncertain significance CREBBP-related disorder 2023-02-13 criteria provided, single submitter clinical testing The CREBBP c.5837C>A variant is predicted to result in the amino acid substitution p.Pro1946Gln. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.016% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/16-3779211-G-T), which is likely too common for an undocumented disease-causing variant. Although we suspect this variant may be benign, at this time its clinical significance is uncertain due to the absence of conclusive functional and genetic evidence.

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