ClinVar Miner

Submissions for variant NC_000016.9:g.(?_3929813)_(4387545_?)dup

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000708038 SCV000837148 uncertain significance Rubinstein-Taybi syndrome due to CREBBP mutations 2018-07-03 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing exon 1 of the CREBBP gene. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 1 of the CREBBP gene. As the precise location of this event is unknown, it may be in tandem or it may be located elsewhere in the genome. A similar copy number gain affecting the first exon of CREBBP has been observed in an individual affected with Rubinstein-Taybi Syndrome (PMID: 15706485). Experimental studies are not available for this variant and the functional significance of a copy number gain of exon 1 is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Invitae RCV001308817 SCV001498287 uncertain significance Rubinstein-Taybi syndrome 2018-06-24 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing exon 1 of the CREBBP gene. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 1 of the CREBBP gene. As the precise location of this event is unknown, it may be in tandem or it may be located elsewhere in the genome. A similar copy number gain affecting the first exon of CREBBP has been observed in an individual affected with Rubinstein-Taybi Syndrome (PMID: 15706485). Experimental studies are not available for this variant and the functional significance of a copy number gain of exon 1 is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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