Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
New York Genome Center | RCV001420529 | SCV001622832 | uncertain significance | Developmental and epileptic encephalopathy, 73 | 2020-07-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002554087 | SCV003030321 | uncertain significance | not provided | 2023-05-27 | 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1098594). This variant has not been reported in the literature in individuals affected with RNF13-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 349 of the RNF13 protein (p.Thr349Ala). |