ClinVar Miner

Submissions for variant NM_001558.4(IL10RA):c.1321G>A (p.Val441Met)

gnomAD frequency: 0.00002  dbSNP: rs748235778
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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 RCV001370072 SCV001566534 uncertain significance Inflammatory bowel disease 28 2024-10-25 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 441 of the IL10RA protein (p.Val441Met). This variant is present in population databases (rs748235778, gnomAD 0.006%). 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: 1060615). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt IL10RA protein function with a negative predictive value of 80%. 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 RCV002550097 SCV003612377 uncertain significance Inborn genetic diseases 2022-04-12 criteria provided, single submitter clinical testing The c.1321G>A (p.V441M) alteration is located in exon 7 (coding exon 7) of the IL10RA gene. This alteration results from a G to A substitution at nucleotide position 1321, causing the valine (V) at amino acid position 441 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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