ClinVar Miner

Submissions for variant NM_000572.3(IL10):c.370C>T (p.Arg124Trp)

gnomAD frequency: 0.00001  dbSNP: rs746523858
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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 RCV001309884 SCV001499398 uncertain significance Inflammatory bowel disease 2021-02-26 criteria provided, single submitter clinical testing This variant is present in population databases (rs746523858, ExAC 0.001%). This sequence change replaces arginine with tryptophan at codon 124 of the IL10 protein (p.Arg124Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant has not been reported in the literature in individuals with IL10-related conditions. 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15").
Ambry Genetics RCV004034218 SCV003594328 uncertain significance not specified 2021-12-06 criteria provided, single submitter clinical testing The c.370C>T (p.R124W) alteration is located in exon 3 (coding exon 3) of the IL10 gene. This alteration results from a C to T substitution at nucleotide position 370, causing the arginine (R) at amino acid position 124 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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