ClinVar Miner

Submissions for variant NM_003824.4(FADD):c.385A>G (p.Ile129Val)

gnomAD frequency: 0.00001  dbSNP: rs750867105
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002045188 SCV002295917 uncertain significance FADD-related immunodeficiency 2022-03-19 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This variant has not been reported in the literature in individuals affected with FADD-related conditions. This variant is present in population databases (rs750867105, gnomAD 0.002%). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 129 of the FADD protein (p.Ile129Val).

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