ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.695T>A (p.Val232Asp) (rs397508783)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000047235 SCV000924250 pathogenic Cystic fibrosis 2018-08-31 reviewed by expert panel research
Counsyl RCV000047235 SCV000485370 likely pathogenic Cystic fibrosis 2015-11-25 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000732693 SCV000860673 pathogenic not provided 2018-04-04 criteria provided, single submitter clinical testing
Mendelics RCV000047235 SCV000886269 pathogenic Cystic fibrosis 2018-11-05 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000780160 SCV000917208 pathogenic not specified 2018-02-26 criteria provided, single submitter clinical testing Variant summary: CFTR c.695T>A (p.Val232Asp) results in a non-conservative amino acid change in the ABC transporter type 1, transmembrane domain in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 2e-05 in 246160 control chromosomes. This frequency is not higher than expected for a pathogenic variant in CFTR causing non-classic Cystic Fibrosis (2e-05 vs 0.013), allowing no conclusion about variant significance. The c.695T>A variant has been reported in the literature in numerous individuals affected with Cystic Fibrosis and non-classic Cystic Fibrosis, including CBAVD. These data indicate that the variant is very likely to be associated with disease. Multiple publications report experimental evidence evaluating an impact on protein function. The most pronounced variant effect results in <10% of normal activity. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation, classifying the variant as likely pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000732693 SCV001134150 pathogenic not provided 2019-08-13 criteria provided, single submitter clinical testing The best available variant frequency is uninformative. Found in at least one symptomatic patient. Predicted to have a damaging effect on the protein. Occurs in multiple cases with a recessive pathogenic variant in the same gene. Assessment of experimental evidence suggests this variant results in abnormal protein function.

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