ClinVar Miner

Submissions for variant NM_001171174.1(CX3CR1):c.10C>G (p.Pro4Ala)

gnomAD frequency: 0.00570  dbSNP: rs147724093
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV001280984 SCV001468368 uncertain significance Coronary heart disease, susceptibility to, 1; Susceptibility to HIV infection; Age related macular degeneration 12 2021-03-30 criteria provided, single submitter clinical testing CX3CR1 NM_001171174.1 exon 1 p.Pro4Ala (c.10C>G): This variant has not been reported in the literature but is present in 0.8% (1048/123526) of European alleles, including 5 homozygotes in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/3-39323177-G-C?dataset=gnomad_r2_1). Evolutionary conservation and computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Breakthrough Genomics, Breakthrough Genomics RCV004692402 SCV005189748 uncertain significance not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003918817 SCV004733490 benign CX3CR1-related disorder 2020-03-04 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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