ClinVar Miner

Submissions for variant NM_001733.7(C1R):c.265T>C (p.Cys89Arg)

dbSNP: rs1938242419
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Periodontology, Nanjing Stomatological Hospital, Medical School of Nanjing University RCV001248812 SCV001251971 likely pathogenic Ehlers-Danlos syndrome 2020-04-25 no assertion criteria provided clinical testing The Cys276Arg variant in C1R has been reported in 1 Chinese families with autosomal dominant associated with severe periodontitis and tooth loss, clinical features suggested a provisional diagnosis of periodontal Ehlers-Danlos syndrome. Whole-exome sequencing identified the Cys276Arg variant in C1R in all affected family members tested (3 affected relatives) and none of the unaffected members (3 relatives) showed genetic findings. The functional context of the Cys276Arg variant in C1R was predicted by sorting intolerant from tolerant (SIFT) and polymorphism phenotyping (Polyphen) v2.0 sharewares: SIFT prediction = 0, deleterious; Polyphen-2 prediction = 0.962, probably damaging. In summary, the Cys276Arg in C1R meets our criteria to be classified as pathogenic.

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