ClinVar Miner

Submissions for variant NM_003824.4(FADD):c.8C>G (p.Pro3Arg)

gnomAD frequency: 0.00001  dbSNP: rs763339860
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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 RCV001352583 SCV001547144 uncertain significance FADD-related immunodeficiency 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces proline with arginine at codon 3 of the FADD protein (p.Pro3Arg). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and arginine. This variant is present in population databases (rs763339860, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with FADD-related conditions. 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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