Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000694016 | SCV000822441 | uncertain significance | Hyperkalemic periodic paralysis | 2023-09-19 | 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SCN4A protein function. ClinVar contains an entry for this variant (Variation ID: 572594). This variant has not been reported in the literature in individuals affected with SCN4A-related conditions. This variant is present in population databases (rs770694096, gnomAD 0.03%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 807 of the SCN4A protein (p.Ala807Thr). |
Athena Diagnostics Inc | RCV000992891 | SCV001145477 | likely benign | not provided | 2019-04-12 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000992891 | SCV003821265 | uncertain significance | not provided | 2020-05-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003303139 | SCV004000086 | uncertain significance | Inborn genetic diseases | 2023-05-09 | criteria provided, single submitter | clinical testing | The c.2419G>A (p.A807T) alteration is located in exon 14 (coding exon 14) of the SCN4A gene. This alteration results from a G to A substitution at nucleotide position 2419, causing the alanine (A) at amino acid position 807 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |