Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000598888 | SCV000709930 | likely pathogenic | not provided | 2017-11-10 | criteria provided, single submitter | clinical testing | The c.82_84delCTT variant has been published as a pathogenic variant in one individual with Diamond-Blackfan anemia (Farrar et al., 2008). The variant is not observed in large population cohorts (Lek et al., 2016). The c.82_84delCTT variant causes an in-frame deletion of Leucine 28. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. In summary, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded. |
Invitae | RCV000013876 | SCV001534836 | uncertain significance | Diamond-Blackfan anemia 5 | 2020-02-03 | criteria provided, single submitter | clinical testing | Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has been observed in individuals with Diamond-Blackfan anemia (PMID: 18535205, 28102861). The variant is also known as c.78_80delTCT in the literature. ClinVar contains an entry for this variant (Variation ID: 13002). This variant is not present in population databases (ExAC no frequency). This variant, c.82_84del, results in the deletion of 1 amino acid of the RPL35A protein (p.Leu28del), but otherwise preserves the integrity of the reading frame. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Ce |
RCV000598888 | SCV002497244 | pathogenic | not provided | 2022-03-01 | criteria provided, single submitter | clinical testing | RPL35A: PP4:Strong, PM2, PM4, PS4:Moderate, PP1 |
OMIM | RCV000013876 | SCV000034123 | pathogenic | Diamond-Blackfan anemia 5 | 2008-09-01 | no assertion criteria provided | literature only |