Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000794771 | SCV000934200 | uncertain significance | Polyglucosan body myopathy type 1 | 2018-09-05 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with RBCK1-related 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.772_774delCAG, results in the deletion of 1 amino acid(s) of the RBCK1 protein (p.Gln258del), but otherwise preserves the integrity of the reading frame. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) 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. |