Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000520195 | SCV000619726 | uncertain significance | not provided | 2017-07-31 | criteria provided, single submitter | clinical testing | The c.2211_2213delCAA variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The variant results in the in-frame deletion of the Asparagine at codon 738, a residue which is not conserved. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. |
| Labcorp Genetics |
RCV000693707 | SCV000821588 | uncertain significance | Netherton syndrome | 2022-09-07 | criteria provided, single submitter | clinical testing | This variant, c.2211_2213del, results in the deletion of 1 amino acid(s) of the SPINK5 protein (p.Asn738del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs781321238, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with SPINK5-related conditions. ClinVar contains an entry for this variant (Variation ID: 451079). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant 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. |
| Breakthrough Genomics, |
RCV000520195 | SCV005188659 | uncertain significance | not provided | criteria provided, single submitter | not provided |