Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000415927 | SCV000493250 | likely pathogenic | not provided | 2016-08-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003505109 | SCV004297510 | uncertain significance | Hyperkalemic periodic paralysis | 2023-07-18 | 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. This variant has been observed in individual(s) with clinical features of a muscular condition (PMID: 26036855). This variant is present in population databases (rs752135284, gnomAD 0.001%). This variant, c.3901_3903del, results in the deletion of 1 amino acid(s) of the SCN4A protein (p.Gln1301del), but otherwise preserves the integrity of the reading frame. |