ClinVar Miner

Submissions for variant NM_003824.4(FADD):c.52A>C (p.Ser18Arg)

gnomAD frequency: 0.00002  dbSNP: rs1408886315
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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 RCV001203753 SCV001374929 uncertain significance FADD-related immunodeficiency 2022-02-21 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 18 of the FADD protein (p.Ser18Arg). This variant is present in population databases (no rsID available, gnomAD 0.003%). 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: 935209). 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). 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.
Ambry Genetics RCV004619546 SCV005119741 uncertain significance Inborn genetic diseases 2024-03-25 criteria provided, single submitter clinical testing The c.52A>C (p.S18R) alteration is located in exon 1 (coding exon 1) of the FADD gene. This alteration results from a A to C substitution at nucleotide position 52, causing the serine (S) at amino acid position 18 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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