Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000766896 | SCV000240931 | uncertain significance | not provided | 2015-10-21 | criteria provided, single submitter | clinical testing | p.Arg260Gln (CGG>CAG): c.779 G>A in exon 5 of the EFHC1 gene (NM_018100.3). The R260Q variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed with any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. The R260Q variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, this substitution occurs at a position that is not highly conserved across species within the second DM10 domain of the protein and in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in CHILD-EPI panel(s). |
Illumina Laboratory Services, |
RCV000378920 | SCV000464164 | uncertain significance | Juvenile myoclonic epilepsy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000187346 | SCV000613249 | likely benign | not specified | 2017-06-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003765174 | SCV001722081 | benign | Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 | 2022-02-04 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003907654 | SCV004727238 | likely benign | EFHC1-related disorder | 2020-10-28 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |