Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000489613 | SCV000576882 | uncertain significance | not provided | 2022-03-28 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV000703733 | SCV000832647 | likely benign | Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 | 2023-09-08 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002506187 | SCV002812051 | uncertain significance | Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5; Thyrotoxic periodic paralysis, susceptibility to, 1 | 2022-03-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002527025 | SCV003728625 | uncertain significance | Inborn genetic diseases | 2022-05-11 | criteria provided, single submitter | clinical testing | The c.4916A>T (p.E1639V) alteration is located in exon 40 (coding exon 40) of the CACNA1S gene. This alteration results from a A to T substitution at nucleotide position 4916, causing the glutamic acid (E) at amino acid position 1639 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |