ClinVar Miner

Submissions for variant NM_001733.7(C1R):c.1073G>A (p.Cys358Tyr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 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.

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