ClinVar Miner

Submissions for variant NM_001145252.3(CFP):c.476G>A (p.Arg159His)

gnomAD frequency: 0.00007  dbSNP: rs200131215
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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 RCV001879775 SCV002153441 uncertain significance not provided 2023-12-22 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 159 of the CFP protein (p.Arg159His). This variant is present in population databases (rs200131215, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with CFP-related conditions. ClinVar contains an entry for this variant (Variation ID: 973631). 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 expected to disrupt CFP protein function with a positive predictive value of 80%. 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.
Breakthrough Genomics, Breakthrough Genomics RCV001879775 SCV005192409 uncertain significance not provided criteria provided, single submitter not provided
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini RCV001267752 SCV001424068 uncertain significance Properdin deficiency, X-linked 2020-05-21 no assertion criteria provided clinical testing

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