Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Claritas Genomics | RCV000449588 | SCV000537838 | uncertain significance | Peripheral neuropathy | 2016-08-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000513369 | SCV000589401 | uncertain significance | not provided | 2018-09-05 | criteria provided, single submitter | clinical testing | A variant of uncertain significance has been identified in the SBF2 gene. The c.5014_5016delAAA variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant is observed in 40/66726 (0.06%) alleles from individuals of European background (Lek et al., 2016). The c.5014_5016delAAA variant results in an in-frame deletion of a single Lysine residue, denoted p.K1672del. This variant occurs at a position that is conserved through mammals. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. |
Ce |
RCV000513369 | SCV000608579 | uncertain significance | not provided | 2017-06-01 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000498336 | SCV000615015 | uncertain significance | not specified | 2017-02-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000540860 | SCV000657971 | uncertain significance | Charcot-Marie-Tooth disease type 4 | 2019-10-24 | criteria provided, single submitter | clinical testing | This variant, c.5014_5016delAAA, results in the deletion of 1 amino acid of the SBF2 protein (p.Lys1672del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs750958357, ExAC 0.06%) but has not been reported in the literature in individuals with an SBF2-related disease. ClinVar contains an entry for this variant (Variation ID: 397621). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid is currently unknown. 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. |
Genomic Research Center, |
RCV000626094 | SCV000746719 | uncertain significance | Charcot-Marie-Tooth disease, type 4B2 | 2017-12-18 | criteria provided, single submitter | clinical testing |