Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000517456 | SCV000613834 | likely pathogenic | not provided | 2016-11-16 | criteria provided, single submitter | clinical testing | |
3billion | RCV001775128 | SCV002011987 | likely pathogenic | Episodic ataxia type 1 | 2021-10-02 | criteria provided, single submitter | clinical testing | The variant has been reported to co-segregate with the disease in at least 3 similarly affected relatives/individuals in the same family or similarly affected unrelated families (PMID: 16511644, PP1). It is not observed in the gnomAD v2.1.1 dataset (PM2). Missense changes are a common disease-causing mechanism (PP2). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.928, 3Cnet: 0.987, PP3). Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline. |