ClinVar Miner

Submissions for variant NM_000204.5(CFI):c.485G>A (p.Gly162Asp)

gnomAD frequency: 0.00003  dbSNP: rs546607673
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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 RCV002651842 SCV003525603 uncertain significance not provided 2024-04-10 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 162 of the CFI protein (p.Gly162Asp). This variant is present in population databases (rs546607673, gnomAD 0.006%). This missense change has been observed in individual(s) with clinical features of CFI-related conditions (PMID: 18557729, 20059470, 22710145, 25788521, 28942469, 31440263). ClinVar contains an entry for this variant (Variation ID: 2203563). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. Experimental studies have shown that this missense change affects CFI function (PMID: 32510551, 32908800, 37363824). 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.
Mayo Clinic Laboratories, Mayo Clinic RCV002651842 SCV005046484 likely pathogenic not provided 2022-04-06 criteria provided, single submitter clinical testing PS3, PS4_moderate

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