ClinVar Miner

Submissions for variant NM_003824.4(FADD):c.547G>T (p.Ala183Ser)

gnomAD frequency: 0.00001  dbSNP: rs763073852
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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 RCV001913131 SCV002175972 uncertain significance FADD-related immunodeficiency 2021-06-19 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with FADD-related conditions. This variant is present in population databases (rs763073852, ExAC 0.002%). This sequence change replaces alanine with serine at codon 183 of the FADD protein (p.Ala183Ser). The alanine residue is weakly conserved and there is a moderate physicochemical difference between alanine and serine. 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 tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain.

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