ClinVar Miner

Submissions for variant NM_001145252.3(CFP):c.716C>T (p.Pro239Leu)

gnomAD frequency: 0.00021  dbSNP: rs200036265
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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 RCV001027815 SCV002325854 benign not provided 2024-12-27 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224510 SCV003919790 uncertain significance Properdin deficiency, X-linked 2021-03-30 criteria provided, single submitter clinical testing CFP NM_002621.2 exon6 p.Pro239Leu (c.716C>T): This variant has not been reported in the literature but is present in 0.02% (27/91272) of European alleles, including 9 hemizygotes in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/X-47486590-G-A). This variant amino acid Leucine (Leu) is present in three species (Rhesus, Egyptian Jerboa and Chinese hamster) and is not well conserved among evolutionarily distant species; this suggests that this variant may not impact the protein. Additional computational prediction tools do not suggest an impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Department of Pathology and Laboratory Medicine, Sinai Health System RCV003224510 SCV005918417 uncertain significance Properdin deficiency, X-linked 2020-08-20 criteria provided, single submitter research

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