ClinVar Miner

Submissions for variant NM_145725.3(TRAF3):c.1688C>T (p.Ser563Leu)

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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 RCV002602238 SCV003491486 uncertain significance Herpes simplex encephalitis, susceptibility to, 3 2024-01-06 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 563 of the TRAF3 protein (p.Ser563Leu). This variant is present in population databases (rs775312865, gnomAD 0.1%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with TRAF3-related conditions. ClinVar contains an entry for this variant (Variation ID: 2175076). 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 tolerated. 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 RCV004073419 SCV003716024 uncertain significance not specified 2024-05-02 criteria provided, single submitter clinical testing The c.1688C>T (p.S563L) alteration is located in exon 11 (coding exon 10) of the TRAF3 gene. This alteration results from a C to T substitution at nucleotide position 1688, causing the serine (S) at amino acid position 563 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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