ClinVar Miner

Submissions for variant NM_003839.4(TNFRSF11A):c.45_62dup (p.Leu16_Leu21dup)

dbSNP: rs886037749
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV000660386 SCV000782466 pathogenic Paget disease of bone 2, early-onset; Familial expansile osteolysis 2016-06-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001852524 SCV002153118 pathogenic not provided 2021-07-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this variant affects TNFRSF11A function (PMID: 10615125, 21472776). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. ClinVar contains an entry for this variant (Variation ID: 208143). This variant is also known as 83dup18, 84dup18. This variant, c.45_62dup, results in the insertion of 6 amino acid(s) to the TNFRSF11A protein (p.Leu16_Leu21dup), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has been observed in individuals with autosomal dominant familial expansile osteolysis (PMID: 10615125, 12568416, 17447113). It has also been observed to segregate with disease in related individuals.
OMIM RCV000190351 SCV000243899 pathogenic Familial expansile osteolysis 2007-01-01 no assertion criteria provided literature only

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