Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001299125 | SCV001488204 | uncertain significance | not provided | 2023-11-27 | criteria provided, single submitter | clinical testing | This sequence change replaces lysine, which is basic and polar, with glutamine, which is neutral and polar, at codon 354 of the SCN3A protein (p.Lys354Gln). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with an SCN3A-related condition (PMID: 18242854). ClinVar contains an entry for this variant (Variation ID: 440968). 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 SCN3A protein function with a negative predictive value of 80%. Experimental studies have shown that this missense change affects SCN3A function (PMID: 18242854, 20420834, 24157691). 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. |
Greenwood Genetic Center Diagnostic Laboratories, |
RCV001299125 | SCV004244579 | uncertain significance | not provided | 2023-10-09 | criteria provided, single submitter | clinical testing | PM2, BS2 |
Genome |
RCV000509281 | SCV000606977 | not provided | SCN3A- Related Disorder | no assertion provided | phenotyping only | GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. | |
Channelopathy- |
RCV003992309 | SCV004809311 | not provided | Early infantile epileptic encephalopathy with suppression bursts | no assertion provided | literature only |