Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000780079 | SCV000917103 | uncertain significance | not specified | 2018-06-14 | criteria provided, single submitter | clinical testing | Variant summary: CACNA1S c.2632G>A (p.Val878Met) results in a conservative amino acid change located in the Ion transport domain of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 1.8e-05 in 277096 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. The variant, c.2632G>A, has been reported in the literature in individuals affected with SCN1A-positive Dravet Syndrome. These report(s) do not provide unequivocal conclusions about association of the variant with Hypokalemic Periodic Paralysis. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance. |
Gene |
RCV001766618 | SCV002008960 | uncertain significance | not provided | 2021-02-04 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Identified in the literature in an individual with Dravet Syndrome who was positive for an SCN1A variant and variants in other neuronal-associated genes (Hammer et al., 2017); This variant is associated with the following publications: (PMID: 28686619) |
Invitae | RCV001856184 | SCV002157306 | likely benign | Hypokalemic periodic paralysis, type 1; Malignant hyperthermia, susceptibility to, 5 | 2024-01-08 | criteria provided, single submitter | clinical testing |