ClinVar Miner

Submissions for variant NM_003824.4(FADD):c.452C>T (p.Thr151Ile)

gnomAD frequency: 0.00011  dbSNP: rs150178083
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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 RCV000697328 SCV000825930 uncertain significance FADD-related immunodeficiency 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 151 of the FADD protein (p.Thr151Ile). This variant is present in population databases (rs150178083, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with FADD-related conditions. ClinVar contains an entry for this variant (Variation ID: 575179). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The isoleucine 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.
Breakthrough Genomics, Breakthrough Genomics RCV004692147 SCV005190424 uncertain significance not provided criteria provided, single submitter not provided

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