ClinVar Miner

Submissions for variant NM_003701.4(TNFSF11):c.667C>T (p.Arg223Ter)

dbSNP: rs267603829
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV002052073 SCV002318492 likely pathogenic Autosomal recessive osteopetrosis 2 2022-03-22 criteria provided, single submitter clinical testing Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through protein truncation. The predicted truncated protein may be shortened by more than 10%. This variant has been reported to be associated with TNFSF11 related disorder (PMID:23762088).It is not observed in the gnomAD v2.1.1 dataset. Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.

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