ClinVar Miner

Submissions for variant NM_000204.5(CFI):c.130G>A (p.Asp44Asn)

gnomAD frequency: 0.00006  dbSNP: rs374036714
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001927799 SCV002173369 uncertain significance not provided 2023-11-28 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 44 of the CFI protein (p.Asp44Asn). This variant is present in population databases (rs374036714, gnomAD 0.008%). This missense change has been observed in individual(s) with age-related macular degeneration (PMID: 24036952, 32510551). ClinVar contains an entry for this variant (Variation ID: 1404667). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CFI protein function with a negative predictive value of 80%. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on CFI function (PMID: 32510551). 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.
Fulgent Genetics, Fulgent Genetics RCV002503552 SCV002812320 uncertain significance Atypical hemolytic-uremic syndrome with I factor anomaly; Age related macular degeneration 13; Factor I deficiency 2022-02-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001927799 SCV005190221 uncertain significance not provided criteria provided, single submitter not provided

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