ClinVar Miner

Submissions for variant NM_003824.4(FADD):c.378C>G (p.Ile126Met)

dbSNP: rs61757382
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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 RCV001216818 SCV001388630 uncertain significance FADD-related immunodeficiency 2022-05-13 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 126 of the FADD protein (p.Ile126Met). This variant is present in population databases (rs61757382, gnomAD 0.002%). 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: 946037). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0". The methionine 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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