Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000193695 | SCV000248823 | uncertain significance | not specified | 2015-04-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000544094 | SCV000658601 | uncertain significance | Hyperkalemic periodic paralysis | 2023-12-15 | criteria provided, single submitter | clinical testing | This variant, c.5420_5425del, results in the deletion of 2 amino acid(s) of the SCN4A protein (p.Leu1807_Met1808del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs781515976, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with SCN4A-related conditions. ClinVar contains an entry for this variant (Variation ID: 212133). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant 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. |
Gene |
RCV000766393 | SCV000710622 | uncertain significance | not provided | 2022-12-28 | criteria provided, single submitter | clinical testing | In-frame deletion of 2 amino acids in a non-repeat region; In silico analysis supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Fulgent Genetics, |
RCV002503757 | SCV002815323 | 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 | 2022-02-01 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000766393 | SCV003818695 | uncertain significance | not provided | 2023-02-15 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003422099 | SCV004116800 | uncertain significance | SCN4A-related condition | 2023-05-25 | criteria provided, single submitter | clinical testing | The SCN4A c.5420_5425del6 variant is predicted to result in an in-frame deletion (p.Leu1807_Met1808del). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.10% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/17-62018216-GGCATCA-G). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |