ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.94C>A (p.Leu32Met) (rs776797377)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000598321 SCV000709400 uncertain significance not provided 2017-06-15 criteria provided, single submitter clinical testing
Counsyl RCV000670047 SCV000794858 uncertain significance Cystic fibrosis 2017-10-18 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000598321 SCV000883578 uncertain significance not provided 2017-12-28 criteria provided, single submitter clinical testing The CFTR c.94C>A; p.Leu32Met variant (rs776797377) has been reported once in the literature in a 2 year old diagnosed with CF who also carried the pathogenic F508del variant (Prach 2013); however, phase of the two variants was not determined and large deletions and duplications were not ruled out. A different alteration at this codon (p.Leu32Pro) has also been reported once in a CF patient who also carried a pathogenic nonsense variant (Liu 2015), but the clinical significance of the p.Leu32Pro variant has not been established. The p.Leu32Met variant is observed in the general population with an overall allele frequency of 0.0008% (2/245708 alleles) in the Genome Aggregation Database. The leucine at codon 32 is highly conserved and computational algorithms (SIFT, PolyPhen2, MutationTaster) predict this variant to be damaging to the protein. However, given the limited clinical and functional data regarding p.Leu32Met, its significance is uncertain at this time. REFERENCES Liu Y et al. Characterization of gene mutations and phenotypes of cystic fibrosis in Chinese patients. Respirology. 2015 Feb;20(2):312-8. Prach L et al. Novel CFTR variants identified during the first 3 years of cystic fibrosis newborn screening in California. J Mol Diagn. 2013 Sep;15(5):710-22.

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