ClinVar Miner

Submissions for variant NM_000572.3(IL10):c.94C>A (p.His32Asn)

dbSNP: rs376787667
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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 RCV000631401 SCV000752472 uncertain significance Inflammatory bowel disease 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces histidine with asparagine at codon 32 of the IL10 protein (p.His32Asn). The histidine residue is moderately conserved and there is a small physicochemical difference between histidine and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with IL10-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The asparagine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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.
Mayo Clinic Laboratories, Mayo Clinic RCV004791643 SCV005408655 uncertain significance not provided 2024-09-04 criteria provided, single submitter clinical testing BP4, PM2

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