ClinVar Miner

Submissions for variant NM_001558.4(IL10RA):c.734T>C (p.Leu245Pro)

gnomAD frequency: 0.00006  dbSNP: rs757461404
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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 RCV001306479 SCV001495853 uncertain significance Inflammatory bowel disease 28 2022-06-27 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 245 of the IL10RA protein (p.Leu245Pro). This variant is present in population databases (rs757461404, gnomAD 0.003%). 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: 1009045). 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 C35"). 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 RCV004987052 SCV005600849 uncertain significance Inborn genetic diseases 2024-10-09 criteria provided, single submitter clinical testing The c.734T>C (p.L245P) alteration is located in exon 6 (coding exon 6) of the IL10RA gene. This alteration results from a T to C substitution at nucleotide position 734, causing the leucine (L) at amino acid position 245 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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