Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000804101 | SCV000943995 | uncertain significance | Hyperkalemic periodic paralysis | 2022-03-14 | 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. Experimental studies have shown that this missense change does not substantially affect SCN4A function (PMID: 29605429). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). ClinVar contains an entry for this variant (Variation ID: 649218). This missense change has been observed in individual(s) with sudden infant death syndrome (SIDS) (PMID: 29605429). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1493 of the SCN4A protein (p.Met1493Val). |
Revvity Omics, |
RCV003141804 | SCV003818766 | uncertain significance | not provided | 2022-04-19 | criteria provided, single submitter | clinical testing |