Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
All of Us Research Program, |
RCV004012596 | SCV004841238 | uncertain significance | Ehlers-Danlos syndrome, type 4 | 2023-10-23 | criteria provided, single submitter | clinical testing | This variant causes an A to G nucleotide substitution at the +3 position of intron 48 of the COL3A1 gene. Splice site prediction tools predict that this variant may have a significant impact on RNA splicing. This prediction has not been confirmed in published RNA studies. This variant has not been reported in individuals affected with COL3A1-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. |