Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Petrovsky National Research Centre of Surgery, |
RCV003154094 | SCV003842263 | likely pathogenic | Ehlers-Danlos syndrome, periodontal type 1 | 2023-01-27 | criteria provided, single submitter | clinical testing | We observed a c.1073G>A (p.Cys358Tyr) genetic variant in heterozygous state in the C1R gene in proband (male, 34 y.o.) and his son (5 y.o.) with Ehlers-Danlos syndrome, periodontal type, 1 (MIM number 130080). This variant is not present in databases (gnomAD, LOVD). ClinVar contains an entry for this variant (Variation ID: 267351) observed in patients with the consistent phenotype. Mutations in the C1R gene are known to be pathogenic (PMID: 27745832, 35365885), including the alternative variant p.Cys358Phe in the same codon. We assume that the c.1073G>A (p.Cys358Tyr) variant could be classified as Likely Pathogenic. |