ClinVar Miner

Submissions for variant NM_001558.4(IL10RA):c.1040C>T (p.Thr347Met)

gnomAD frequency: 0.00003  dbSNP: rs747574092
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001238142 SCV001410941 uncertain significance Inflammatory bowel disease 28 2022-01-02 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 347 of the IL10RA protein (p.Thr347Met). This variant is present in population databases (rs747574092, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with IL10RA-related conditions. ClinVar contains an entry for this variant (Variation ID: 964011). 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: "Benign"; Align-GVGD: "Class C0"). 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.

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