ClinVar Miner

Submissions for variant NM_145725.3(TRAF3):c.53C>T (p.Pro18Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004677410 SCV005174296 uncertain significance not specified 2024-05-02 criteria provided, single submitter clinical testing The c.53C>T (p.P18L) alteration is located in exon 2 (coding exon 1) of the TRAF3 gene. This alteration results from a C to T substitution at nucleotide position 53, causing the proline (P) at amino acid position 18 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV005103494 SCV005760595 uncertain significance Herpes simplex encephalitis, susceptibility to, 3 2024-10-28 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 18 of the TRAF3 protein (p.Pro18Leu). This variant is present in population databases (rs145456077, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with TRAF3-related conditions. An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The leucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.

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