Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000707024 | SCV000836102 | uncertain significance | Rubinstein-Taybi syndrome | 2018-07-03 | criteria provided, single submitter | clinical testing | 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. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. Family studies have indicated that an individual with Rubinstein-Taybi syndrome inherited this variant from an unaffected parent, which suggests that this variant is not likely a primary cause of disease. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant, c.7058_7078del, results in the deletion of 7 amino acids of the CREBBP protein (p.Arg2353_Pro2359del), but otherwise preserves the integrity of the reading frame. |