ClinVar Miner

Submissions for variant NM_001737.5(C9):c.1346T>C (p.Val449Ala)

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Total submissions: 1
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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 RCV003224761 SCV003920643 uncertain significance Complement component 9 deficiency; Age related macular degeneration 15 2021-03-30 criteria provided, single submitter clinical testing C9 NM_001737.4 exon 9 p.Val449Ala (c.1346T>C): This variant has not been reported in the literature but is present in 0.006% (1/16254) of African alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/5-39306789-A-G). 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.

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