Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV002062046 | SCV003934942 | likely benign | Angelman syndrome | 2023-06-16 | reviewed by expert panel | curation | The c.729C>T p.Asn243= variant in UBE3A (NM_130838.2) is present in gnomAD v2.1.1 at a frequency of 0.003% in the Latino/Admixed American sub population (no criteria met). The silent p.Asn243= variant is not predicted to affect splicing using multiple computational tools and does not affect a highly conserved nucleotide (BP4, BP7). In summary, the c.729C>T p.Asn243= variant in UBE3A is classified as Likely Benign based on the ACMG/AMP criteria (BP4, BP7). |
Eurofins Ntd Llc |
RCV000727010 | SCV000704893 | uncertain significance | not provided | 2017-01-09 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000727010 | SCV000727612 | likely benign | not provided | 2021-05-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002062046 | SCV002383016 | likely benign | Angelman syndrome | 2023-12-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002384298 | SCV002674257 | likely benign | Inborn genetic diseases | 2017-12-28 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |