Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000814054 | SCV000954446 | uncertain significance | Familial hyperkalemic periodic paralysis | 2022-09-01 | 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. ClinVar contains an entry for this variant (Variation ID: 657453). This missense change has been observed in individual(s) with clinical features of SCN4A-related conditions (Invitae). This variant is present in population databases (no rsID available, gnomAD 0.004%). This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 1534 of the SCN4A protein (p.Thr1534Met). |
Ambry Genetics | RCV001265891 | SCV001444063 | uncertain significance | Inborn genetic diseases | 2018-09-10 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV003141829 | SCV003818655 | uncertain significance | not provided | 2019-09-17 | criteria provided, single submitter | clinical testing |