ClinVar Miner

Submissions for variant NM_145725.3(TRAF3):c.1021C>T (p.Arg341Trp)

gnomAD frequency: 0.00009  dbSNP: rs530010854
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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 RCV000796583 SCV000936102 uncertain significance Herpes simplex encephalitis, susceptibility to, 3 2023-04-07 criteria provided, single submitter clinical testing An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 642995). This variant has not been reported in the literature in individuals affected with TRAF3-related conditions. This variant is present in population databases (rs530010854, gnomAD 0.02%). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 341 of the TRAF3 protein (p.Arg341Trp). 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 RCV004678828 SCV005174295 uncertain significance not specified 2024-05-13 criteria provided, single submitter clinical testing The c.1021C>T (p.R341W) alteration is located in exon 10 (coding exon 9) of the TRAF3 gene. This alteration results from a C to T substitution at nucleotide position 1021, causing the arginine (R) at amino acid position 341 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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