ClinVar Miner

Submissions for variant NM_003824.4(FADD):c.313T>C (p.Cys105Arg)

gnomAD frequency: 0.00006  dbSNP: rs369869993
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001321561 SCV001512397 uncertain significance FADD-related immunodeficiency 2022-09-07 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 105 of the FADD protein (p.Cys105Arg). This variant is present in population databases (rs369869993, gnomAD 0.01%). This missense change has been observed in individual(s) with clinical features of FADD deficiency (PMID: 25326637, 32350755). ClinVar contains an entry for this variant (Variation ID: 242496). 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: "Probably Damaging"; Align-GVGD: "Class C0"). This variant disrupts the p.Cys105 amino acid residue in FADD. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 21109225, 25794656). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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.
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001701795 SCV001931486 likely pathogenic not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001701795 SCV001965897 likely pathogenic not provided no assertion criteria provided clinical testing
OMIM RCV001321561 SCV002029067 pathogenic FADD-related immunodeficiency 2021-11-30 no assertion criteria provided literature only

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