Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Genomics, |
RCV003224658 | SCV003919765 | uncertain significance | Severe combined immunodeficiency due to CARMIL2 deficiency | 2021-12-22 | criteria provided, single submitter | clinical testing | CARMIL2 NM_001013838.3 exon 17 p.Val516Met (c.1546G>A): This variant has not been reported in the literature, but is present in 0.02% (6/33686) of Latino alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/16-67682832-G-A?dataset=gnomad_r2_1). Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |
Prevention |
RCV003420619 | SCV004106726 | uncertain significance | CARMIL2-related disorder | 2022-09-13 | criteria provided, single submitter | clinical testing | The CARMIL2 c.1546G>A variant is predicted to result in the amino acid substitution p.Val516Met. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.018% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/16-67682832-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |