Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000996613 | SCV001151427 | likely pathogenic | not provided | 2019-01-01 | criteria provided, single submitter | clinical testing | |
3billion | RCV001260984 | SCV002011903 | pathogenic | Desbuquois dysplasia 1 | 2021-10-02 | criteria provided, single submitter | clinical testing | Same nucleotide change resulting in same amino acid change has been previously reported as pathogenic/likely pathogeic with strong evidence (ClinVar ID: VCV000808323.7, PMID: 31988067, PS1) and CANT1 enzyme activity study showed defective neuclotidase acitivity (PMID: 31988067, PS3). It is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.000004, 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: 0.907, 3Cnet: 0.742, PP3). Patient's phenotype is considered compatible with Desbuquois dysplasia 1 (3billion dataset, PP4). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline |
OMIM | RCV001260984 | SCV001438358 | pathogenic | Desbuquois dysplasia 1 | 2020-10-19 | no assertion criteria provided | literature only |