ClinVar Miner

Submissions for variant NM_003721.4(RFXANK):c.706C>T (p.Arg236Trp)

gnomAD frequency: 0.00053  dbSNP: rs143964319
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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 RCV000647945 SCV000769752 uncertain significance MHC class II deficiency 2024-12-26 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 236 of the RFXANK protein (p.Arg236Trp). This variant is present in population databases (rs143964319, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with RFXANK-related conditions. ClinVar contains an entry for this variant (Variation ID: 81031). 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 RFXANK 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.
New York Genome Center RCV000647945 SCV001815715 uncertain significance MHC class II deficiency 2021-07-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004691745 SCV005195035 uncertain significance not provided criteria provided, single submitter not provided

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