ClinVar Miner

Submissions for variant NM_147686.4(TRAF3IP2):c.869T>G (p.Ile290Ser)

gnomAD frequency: 0.00001  dbSNP: rs200074354
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV002210904 SCV002496009 uncertain significance Psoriasis 13, susceptibility to; Candidiasis, familial, 8 2021-03-30 criteria provided, single submitter clinical testing TRAF3IP2 NM_147686.3 exon 3 p.Ile290Ser (c.869T>G): This variant has not been reported in the literature but is present in 0.004% (3/68032) of European alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/6-111580350-A-C?dataset=gnomad_r3). Evolutionary conservation and computational predictive tools suggest that this variant may not impact the protein. Of note, although this variant occurs in the exon, computational prediction tools suggest that it may impact splicing. Further studies are needed to understand its impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp RCV003093836 SCV003516051 uncertain significance Candidiasis, familial, 8 2022-06-18 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with TRAF3IP2-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces isoleucine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 290 of the TRAF3IP2 protein (p.Ile290Ser).
Ambry Genetics RCV004047185 SCV003908592 uncertain significance not specified 2023-02-23 criteria provided, single submitter clinical testing The c.869T>G (p.I290S) alteration is located in exon 3 (coding exon 2) of the TRAF3IP2 gene. This alteration results from a T to G substitution at nucleotide position 869, causing the isoleucine (I) at amino acid position 290 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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