Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
3billion | RCV002283935 | SCV002573162 | likely pathogenic | Autosomal dominant centronuclear myopathy | 2022-09-01 | criteria provided, single submitter | clinical testing | The variant is not observed in the gnomAD v2.1.1 dataset. Missense changes are a common disease-causing mechanism. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.55; 3Cnet: 0.80). Same nucleotide change resulting in same amino acid change has been previously reported to be associated with DNM2-related disorder (PMID: 23374900). 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: 23374900). Therefore, this variant is classified as Likely pathogenic according to the recommendation of ACMG/AMP guideline. |
Inherited Neuropathy Consortium Ii, |
RCV003447331 | SCV004174760 | uncertain significance | Charcot-Marie-Tooth disease dominant intermediate B | 2016-01-06 | no assertion criteria provided | literature only |