Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001304634 | SCV001493926 | uncertain significance | not provided | 2018-01-11 | criteria provided, single submitter | clinical testing | This sequence change results in a premature translational stop signal in the C19orf70 gene (p.Gly87Alafs*3). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 32 amino acids of the C19orf70 protein. The C19orf70 gene has multiple transcripts. The c.260delG (p.Gly87Alafs*3) variant occurs in alternate transcript NM_205767.2, which corresponds to c.326delG (p.Gly109Alafs*3) in NM_001308240.1, the primary transcript listed in the Methods. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with C19orf70-related disease. 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. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. |
| Gene |
RCV001304634 | SCV004022746 | likely pathogenic | not provided | 2023-07-27 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation, as the last 32 amino acids are replaced with 2 different amino acids, and another loss-of-function variant affecting the last exon has been reported in the published literature (Godiker et al., 2018); This variant is associated with the following publications: (PMID: 30912852) |