Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000710209 | SCV000203513 | uncertain significance | not provided | 2014-01-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000710209 | SCV000242508 | uncertain significance | not provided | 2018-04-24 | criteria provided, single submitter | clinical testing | The Arg580Gln missense change has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The amino acid substitution 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. This substitution occurs at a position that is conserved through mammals but is not conserved in more distant species through evolution in the cytoplasmic loop between the first and second homologous domains. Multiple in silico algorithms predict it may be damaging to protein structure/function. Therefore, based on the currently available information, it is unclear whether Arg580Gln is a pathogenic variant or a rare benign variant. |
Invitae | RCV000471353 | SCV000548756 | likely benign | Early infantile epileptic encephalopathy with suppression bursts | 2024-01-12 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000515440 | SCV000611518 | uncertain significance | Migraine, familial hemiplegic, 3; Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2 | 2017-05-23 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000710209 | SCV000615025 | likely benign | not provided | 2018-08-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002408682 | SCV002715757 | likely benign | Inborn genetic diseases | 2018-01-31 | 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. |