Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Genomics, |
RCV001280962 | SCV001468335 | uncertain significance | Ehlers-Danlos syndrome, periodontal type 1 | 2021-03-30 | criteria provided, single submitter | clinical testing | C1R NM_001733.5 exon 4 p.Arg149Trp (c.445C>T): This variant has not been reported in the literature but is present in 0.05% (13/24174) of African alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/12-7242309-G-A?dataset=gnomad_r2_1). Evolutionary conservation suggests that this variant may not impact the protein; 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. |