ClinVar Miner

Submissions for variant NM_000628.5(IL10RB):c.548C>G (p.Pro183Arg)

gnomAD frequency: 0.00009  dbSNP: rs141328537
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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 RCV001228696 SCV001401110 uncertain significance Inflammatory bowel disease 25 2023-10-03 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 183 of the IL10RB protein (p.Pro183Arg). This variant is present in population databases (rs141328537, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with IL10RB-related conditions. ClinVar contains an entry for this variant (Variation ID: 955970). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on IL10RB protein function. 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 RCV002563145 SCV003555281 uncertain significance Inborn genetic diseases 2022-10-12 criteria provided, single submitter clinical testing The c.548C>G (p.P183R) alteration is located in exon 5 (coding exon 5) of the IL10RB gene. This alteration results from a C to G substitution at nucleotide position 548, causing the proline (P) at amino acid position 183 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV004792826 SCV005410133 uncertain significance not provided 2024-05-30 criteria provided, single submitter clinical testing BP4

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