Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001267205 | SCV001445386 | likely pathogenic | Inborn genetic diseases | 2019-01-09 | criteria provided, single submitter | clinical testing | |
3billion | RCV000150043 | SCV002572860 | pathogenic | Cerebellar-facial-dental syndrome | 2022-09-01 | criteria provided, single submitter | clinical testing | The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: <0.001%). Functional studies provide strong evidence of the variant having a damaging effect on the gene or gene product (PMID: 25561519 , 25561519). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.86; 3Cnet: 0.56). Same nucleotide change resulting in same amino acid change has been previously reported to be associated with BRF1-related disorder (ClinVar ID: VCV000161423 / PMID: 25561519). The variant has been reported to be in trans with a pathogenic variant as either compound heterozygous or homozygous in at least one similarly affected unrelated individual (PMID: 25561519). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline. |
Institute of Human Genetics, |
RCV000150043 | SCV000192004 | pathogenic | Cerebellar-facial-dental syndrome | 2014-12-04 | no assertion criteria provided | research | |
OMIM | RCV000150043 | SCV000196913 | pathogenic | Cerebellar-facial-dental syndrome | 2015-01-05 | no assertion criteria provided | literature only |