Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Genomics, |
RCV000767952 | SCV000898657 | uncertain significance | Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures; Charcot-Marie-Tooth disease axonal type 2O; Intellectual disability, autosomal dominant 13 | 2021-03-30 | criteria provided, single submitter | clinical testing | DYNC1H1 NM_001376.4 exon 63 p.Val3936Met (c.11806G>A): This variant has not been reported in the literature and is present in 0.01% (4/35436) of Latino alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/14-102506688-G-A). This variant amino acid Methionine (Met) is present in several species including multiple mammals, and it is not well conserved among evolutionarily distant species; this suggests that this variant may not impact the protein. Additional computational prediction tools do not suggest an impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |
Gene |
RCV001662807 | SCV001874922 | likely benign | not provided | 2020-10-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001855967 | SCV002213177 | likely benign | Charcot-Marie-Tooth disease axonal type 2O | 2024-01-04 | criteria provided, single submitter | clinical testing | |
New York Genome Center | RCV002275155 | SCV002564204 | uncertain significance | Intellectual disability, autosomal dominant 13 | 2021-09-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002332545 | SCV002633581 | likely benign | Inborn genetic diseases | 2018-12-03 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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. |