ClinVar Miner

Submissions for variant NM_000204.5(CFI):c.1063G>A (p.Val355Met)

gnomAD frequency: 0.00002  dbSNP: rs1250103299
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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 RCV001891885 SCV002145662 uncertain significance not provided 2022-07-21 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 1379012). This variant has not been reported in the literature in individuals affected with CFI-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 355 of the CFI protein (p.Val355Met).
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294490 SCV002587712 uncertain significance Atypical hemolytic-uremic syndrome 2019-12-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002482620 SCV002789798 uncertain significance Atypical hemolytic-uremic syndrome with I factor anomaly; Age related macular degeneration 13; Factor I deficiency 2022-04-10 criteria provided, single submitter clinical testing

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