ClinVar Miner

Submissions for variant NM_018124.4(RFWD3):c.2266C>T (p.Arg756Cys)

gnomAD frequency: 0.00060  dbSNP: rs150221303
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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 RCV002979564 SCV003292996 uncertain significance not provided 2024-11-20 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 756 of the RFWD3 protein (p.Arg756Cys). This variant is present in population databases (rs150221303, gnomAD 0.2%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with RFWD3-related conditions. ClinVar contains an entry for this variant (Variation ID: 2080832). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
Ambry Genetics RCV004065257 SCV004939509 uncertain significance not specified 2023-12-28 criteria provided, single submitter clinical testing The c.2266C>T (p.R756C) alteration is located in exon 13 (coding exon 12) of the RFWD3 gene. This alteration results from a C to T substitution at nucleotide position 2266, causing the arginine (R) at amino acid position 756 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003943698 SCV004758416 likely benign RFWD3-related disorder 2023-06-27 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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