ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.581G>T (p.Gly194Val) (rs397508763)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000729929 SCV000857631 uncertain significance not provided 2017-11-07 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001002323 SCV001160217 likely pathogenic not specified 2019-01-08 criteria provided, single submitter clinical testing The c.581G>T; p.Gly194Val variant (rs397508763) has been reported in an individual with congenital bilateral absence of vas deferens in trans with a pathogenic variant (c.2657+5G>A) (Steiner 2011) and in an individual with elevated sweat chloride level that also carried a pathogenic p.Phe508del variant (Rychkova 2017). The p.Gly194Val variant is found on a single chromosome in the Genome Aggregation Database, indicating it is not a common polymorphism. The glycine at residue 194 is moderately conserved, and computational analyses (Alamut v.2.11) predict that this variant may impact splicing by creating a novel cryptic donor splice site. Based on available information, this variant is considered to be likely pathogenic. References: Rychkova A et al. Developing gene-specific meta-predictor of variant pathogenicity. bioRxiv. 2017 Mar 10; doi: https://doi.org/10.1101/115956. Steiner B et al. Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens. Hum Mutat. 2011 Aug;32(8):912-20.
CFTR-France RCV001009497 SCV001169592 pathogenic CFTR-related disorders 2018-01-29 criteria provided, single submitter curation
Ambry Genetics RCV001024572 SCV001186604 uncertain significance Inborn genetic diseases 2019-12-05 criteria provided, single submitter clinical testing Insufficient evidence
Johns Hopkins Genomics,Johns Hopkins University RCV001250516 SCV001425309 pathogenic Cystic fibrosis 2020-03-09 criteria provided, single submitter clinical testing CFTR variant associated with varying clinical consequence. See www.CFTR2.org for phenotype information.

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