Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000189486 | SCV000243129 | uncertain significance | not provided | 2014-03-13 | criteria provided, single submitter | clinical testing | p.Val205Val (V205V): c.615 T>A NM_001130438.2 The c.615 T>A variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Multiple in silico models predict that the c.615 T>A variant could potentially create a cryptic donor site that may supplant the natural site. However, no splice mutations have been reported in the SPTAN1 gene to our knowledge, and in the absence of RNA/functional studies, the actual effect of the c.615 T>A sequence change is unknown. 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 EPILEPSY panel(s). |
Invitae | RCV001492552 | SCV001697166 | likely benign | Early infantile epileptic encephalopathy with suppression bursts | 2021-08-29 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001808505 | SCV002056523 | benign | Developmental and epileptic encephalopathy, 5 | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002354534 | SCV002660385 | likely benign | Inborn genetic diseases | 2018-12-06 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |