ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.1913C>T (p.Pro638Leu) (rs1562907846)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757082 SCV000885184 uncertain significance not provided 2018-06-15 criteria provided, single submitter clinical testing The CFTR c.1913C>T; p.Pro638Leu variant, to our knowledge, is not reported in the medical literature or gene specific databases. This variant is also absent from the general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. The proline at codon 638 is highly conserved, but computational analyses (SIFT: Tolerated, PolyPhen-2: Probably Damaging) predict conflicting effects of this variant on protein structure/function. Due to limited information, the clinical significance of the p.Pro638Leu variant is uncertain at this time.

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