ClinVar Miner

Submissions for variant NM_003839.4(TNFRSF11A):c.1703G>A (p.Arg568His)

gnomAD frequency: 0.00034  dbSNP: rs375618864
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001333166 SCV001525678 uncertain significance Familial expansile osteolysis 2018-12-06 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV001871847 SCV002010002 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001871847 SCV002110137 uncertain significance not provided 2025-02-03 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 568 of the TNFRSF11A protein (p.Arg568His). This variant is present in population databases (rs375618864, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with TNFRSF11A-related conditions. ClinVar contains an entry for this variant (Variation ID: 1031362). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The histidine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
CeGaT Center for Human Genetics Tuebingen RCV001871847 SCV004699930 uncertain significance not provided 2024-01-01 criteria provided, single submitter clinical testing TNFRSF11A: PM2
Ambry Genetics RCV004035758 SCV004968930 uncertain significance Inborn genetic diseases 2020-12-04 criteria provided, single submitter clinical testing The c.1703G>A (p.R568H) alteration is located in exon 10 (coding exon 10) of the TNFRSF11A gene. This alteration results from a G to A substitution at nucleotide position 1703, causing the arginine (R) at amino acid position 568 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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