ClinVar Miner

Submissions for variant NM_145725.3(TRAF3):c.139G>A (p.Val47Met)

gnomAD frequency: 0.00004  dbSNP: rs755721963
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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 RCV001370446 SCV001566935 uncertain significance Herpes simplex encephalitis, susceptibility to, 3 2022-06-13 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1060945). This variant has not been reported in the literature in individuals affected with TRAF3-related conditions. This variant is present in population databases (rs755721963, gnomAD 0.004%). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 47 of the TRAF3 protein (p.Val47Met).
Fulgent Genetics, Fulgent Genetics RCV001370446 SCV002780101 uncertain significance Herpes simplex encephalitis, susceptibility to, 3 2021-10-14 criteria provided, single submitter clinical testing

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