ClinVar Miner

Submissions for variant NM_017999.5(RNF31):c.2432A>C (p.Glu811Ala)

gnomAD frequency: 0.00008  dbSNP: rs200318503
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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 RCV001872290 SCV002124486 uncertain significance not provided 2024-12-28 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with alanine, which is neutral and non-polar, at codon 811 of the RNF31 protein (p.Glu811Ala). This variant is present in population databases (rs200318503, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with RNF31-related conditions. ClinVar contains an entry for this variant (Variation ID: 1359574). 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. 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 RCV004039698 SCV003722351 uncertain significance not specified 2023-12-20 criteria provided, single submitter clinical testing The c.2432A>C (p.E811A) alteration is located in exon 14 (coding exon 14) of the RNF31 gene. This alteration results from a A to C substitution at nucleotide position 2432, causing the glutamic acid (E) at amino acid position 811 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV001872290 SCV005409687 uncertain significance not provided 2024-06-03 criteria provided, single submitter clinical testing

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