ClinVar Miner

Submissions for variant NM_002546.4(TNFRSF11B):c.1205A>T (p.Ter402Leu)

dbSNP: rs2129877362
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001942035 SCV002228622 pathogenic not provided 2023-08-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this protein extension affects TNFRSF11B function (PMID: 24743232). This sequence change disrupts the translational stop signal of the TNFRSF11B mRNA. It is expected to extend the length of the TNFRSF11B protein by 19 additional amino acid residues. This variant is not present in population databases (gnomAD no frequency). This protein extension has been observed in individuals with osteoarthritis (PMID: 24743232, 29578045). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 1454756). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant.

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