Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000523033 | SCV000619948 | uncertain significance | not provided | 2019-07-23 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); In-frame deletion of 2 amino acids and insertion of 1 amino acids in a non-repeat region; Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV002525199 | SCV003223428 | uncertain significance | Early infantile epileptic encephalopathy with suppression bursts | 2022-10-15 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 451274). This variant has not been reported in the literature in individuals affected with SCN1A-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.5855_5857del, is a complex sequence change that results in the deletion of 2 and insertion of 1 amino acid(s) in the SCN1A protein (p.Asn1952_Leu1953delinsIle). |