Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001837128 | SCV002097527 | uncertain significance | not provided | 2024-06-07 | criteria provided, single submitter | clinical testing | In-frame deletion of 3 amino acids in a repetitive region with no known function; Has not been previously published as pathogenic or benign to our knowledge; Located in an alternate transcript of the gene |
Ambry Genetics | RCV002440898 | SCV002747872 | likely benign | Inborn genetic diseases | 2021-08-26 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Prevention |
RCV004542136 | SCV004778096 | uncertain significance | KIF1A-related disorder | 2023-12-21 | no assertion criteria provided | clinical testing | The KIF1A c.2745_2753del9 variant is predicted to result in an in-frame deletion (p.Glu915_Glu917del). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.12% of alleles in individuals of African descent in gnomAD. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |