Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000638462 | SCV000759986 | uncertain significance | Perlman syndrome | 2023-10-10 | criteria provided, single submitter | clinical testing | This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 47 of the DIS3L2 protein (p.Lys47Asn). This variant is present in population databases (rs766516846, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with DIS3L2-related conditions. ClinVar contains an entry for this variant (Variation ID: 531905). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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. |
Prevention |
RCV003403468 | SCV004119163 | uncertain significance | DIS3L2-related condition | 2022-09-16 | criteria provided, single submitter | clinical testing | The DIS3L2 c.141G>T variant is predicted to result in the amino acid substitution p.Lys47Asn. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0018% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-232880312-G-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |