Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001219346 | SCV001391281 | uncertain significance | Congenital muscular hypertrophy-cerebral syndrome | 2019-09-27 | 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with SMC1A-related conditions. This variant is not present in population databases (ExAC no frequency). This variant, c.2732_2734del, results in the deletion of 1 amino acid(s) of the SMC1A protein (p.Glu911del), but otherwise preserves the integrity of the reading frame. |