Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000990242 | SCV001141120 | likely benign | Spinocerebellar ataxia type 13 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000996984 | SCV001152009 | likely pathogenic | not provided | 2019-05-01 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000996984 | SCV002770811 | uncertain significance | not provided | 2023-08-24 | criteria provided, single submitter | clinical testing | Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is higher than would generally be expected for pathogenic variants in this gene (http://gnomad.broadinstitute.org). Assessment of experimental evidence suggests this variant results in abnormal protein function. This variant inhibits current inactivation (PMID: 29949095). |
Invitae | RCV000996984 | SCV004509506 | pathogenic | not provided | 2023-04-23 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this variant affects KCNC3 function (PMID: 29949095). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. ClinVar contains an entry for this variant (Variation ID: 803573). This variant has been observed in individuals with spinocerebellar ataxia (PMID: 29949095). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs772002798, gnomAD 0.01%). This variant, c.1746_1754del, results in the deletion of 3 amino acid(s) of the KCNC3 protein (p.Pro583_Pro585del), but otherwise preserves the integrity of the reading frame. |
Practice for Gait Abnormalities, |
RCV003319217 | SCV004023214 | likely pathogenic | Tip-toe gait | 2022-10-25 | no assertion criteria provided | clinical testing |