Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000713119 | SCV000843690 | uncertain significance | not provided | 2018-08-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001224260 | SCV001396447 | uncertain significance | Hyperkalemic periodic paralysis | 2019-10-18 | 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has been observed in combination with a different SCN4A variant in a family with congenital myopathy (PMID: 30369941). ClinVar contains an entry for this variant (Variation ID: 586523). This variant is present in population databases (rs774183791, ExAC 0.001%). This sequence change replaces proline with leucine at codon 1650 of the SCN4A protein (p.Pro1650Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. |
Gene |
RCV000713119 | SCV001830671 | uncertain significance | not provided | 2020-03-27 | criteria provided, single submitter | clinical testing | Observed in an individual with neuromuscular symptoms who harbored a second SCN4A variant (Theunissen et al., 2018); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 32487525, 32129495, 30369941) |
Fulgent Genetics, |
RCV002493267 | SCV002776152 | uncertain significance | Hypokalemic periodic paralysis, type 1; Potassium-aggravated myotonia; Paramyotonia congenita of Von Eulenburg; Hypokalemic periodic paralysis, type 2; Hyperkalemic periodic paralysis; Congenital myasthenic syndrome 16 | 2021-12-30 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000713119 | SCV004138783 | uncertain significance | not provided | 2022-03-01 | criteria provided, single submitter | clinical testing | SCN4A: PM2, PM3, PP3 |