ClinVar Miner

Submissions for variant NM_003701.4(TNFSF11):c.572G>A (p.Arg191Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004785745 SCV005400741 uncertain significance Autosomal recessive osteopetrosis 2 2023-06-22 criteria provided, single submitter clinical testing The observed missense c.572G>A (p.Arg191Gln) variant in TNFSF11 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Arg191Gln variant is absent in gnomAD Exomes. This variant has not been submitted to the ClinVar database. Multiple lines of computational evidence (Polyphen - Probably Damaging, SIFT - Damaging and MutationTaster - Disease causing) predict a damaging effect on protein structure and function for this variant. The reference amino acid of p.Arg191Gln in TNFSF11 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Arg at position 191 is changed to a Gln changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as a Variant of Uncertain Significance (VUS).

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