ClinVar Miner

Submissions for variant NM_004928.3(CFAP410):c.269G>C (p.Arg90Pro)

dbSNP: rs567435284
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002289689 SCV002578544 uncertain significance not provided 2022-03-14 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 32581362, 28041643)
Invitae RCV002289689 SCV003444519 uncertain significance not provided 2023-05-08 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with cone-rod dystrophy (PMID: 28041643). 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 expected to disrupt CFAP410 protein function. ClinVar contains an entry for this variant (Variation ID: 438158). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with proline, which is neutral and non-polar, at codon 90 of the CFAP410 protein (p.Arg90Pro).
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504624 SCV000599095 likely pathogenic Retinal dystrophy 2015-01-01 no assertion criteria provided research

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