ClinVar Miner

Submissions for variant NM_017763.6(RNF43):c.505G>A (p.Ala169Thr)

gnomAD frequency: 0.00001  dbSNP: rs779337229
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001360944 SCV001556900 uncertain significance not provided 2024-01-26 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 169 of the RNF43 protein (p.Ala169Thr). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RNF43-related conditions. ClinVar contains an entry for this variant (Variation ID: 1052713). 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 disruptive. Experimental studies have shown that this missense change affects RNF43 function (PMID: 26350900, 36097219). 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.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV001360944 SCV002011580 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing

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