ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.26C>T (p.Ala9Val) (rs949472192)

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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 RCV000755917 SCV000883583 uncertain significance not provided 2018-02-27 criteria provided, single submitter clinical testing The CFTR c.26C>T; p.Ala9Val variant (rs949472192), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is found in the general population at a low overall allele frequency of 0.003% (1/30952 alleles) in the Genome Aggregation Database, indicating it is not a common polymorphism. The alanine at codon 9 is highly conserved and computational algorithms (SIFT, PolyPhen2) predict this variant is deleterious to the protein, and it may cause abnormal splicing due to the creation of a cryptic donor splice site upstream of the canonical site of intron 1 (Alamut v.2.10). However, due to the limited information regarding this variant, its clinical significance is uncertain at this time.

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