ClinVar Miner

Submissions for variant NM_145725.3(TRAF3):c.626G>A (p.Ser209Asn)

gnomAD frequency: 0.00001  dbSNP: rs199989168
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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 RCV001888513 SCV002146999 uncertain significance Herpes simplex encephalitis, susceptibility to, 3 2023-12-04 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 209 of the TRAF3 protein (p.Ser209Asn). This variant is present in population databases (rs199989168, gnomAD 0.03%). 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: 1377442). 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 RCV004041101 SCV003723151 uncertain significance not specified 2021-12-17 criteria provided, single submitter clinical testing The c.626G>A (p.S209N) alteration is located in exon 6 (coding exon 5) of the TRAF3 gene. This alteration results from a G to A substitution at nucleotide position 626, causing the serine (S) at amino acid position 209 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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