ClinVar Miner

Submissions for variant NM_003824.4(FADD):c.466G>A (p.Ala156Thr)

gnomAD frequency: 0.00002  dbSNP: rs767771723
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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 RCV001305512 SCV001494850 uncertain significance FADD-related immunodeficiency 2022-08-03 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1008211). This variant has not been reported in the literature in individuals affected with FADD-related conditions. This variant is present in population databases (rs767771723, gnomAD 0.02%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 156 of the FADD protein (p.Ala156Thr). 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. 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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