ClinVar Miner

Submissions for variant NM_003839.4(TNFRSF11A):c.637G>A (p.Gly213Ser)

dbSNP: rs766330561
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001968070 SCV002224896 uncertain significance not provided 2024-12-19 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 213 of the TNFRSF11A protein (p.Gly213Ser). This variant is present in population databases (rs766330561, gnomAD 0.008%). 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: 1442005). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt TNFRSF11A protein function with a negative predictive value of 80%. 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.
Fulgent Genetics, Fulgent Genetics RCV002479536 SCV002775512 uncertain significance Paget disease of bone 2, early-onset; Familial expansile osteolysis; Autosomal recessive osteopetrosis 7 2021-08-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002563405 SCV003755761 likely benign Inborn genetic diseases 2022-01-07 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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