ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.2988G>A (p.Gln996=) (rs121908797)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000029512 SCV000071571 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
Integrated Genetics/Laboratory Corporation of America RCV000029512 SCV000052163 pathogenic Cystic fibrosis 2019-03-15 criteria provided, single submitter clinical testing Variant summary: CFTR c.2988G>A (p.Gln996Gln) alters a conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. Several computational tools predict a significant impact on normal splicing: Four predict the variant weakens a 5' donor site. Four predict the variant abolishes a 3' acceptor site. Functional studies report the variant to lead to abberrant splicing (Zielendki_1994). The variant allele was found at a frequency of 7.2e-06 in 276732 control chromosomes. c.2988G>A has been reported in the literature in multiple individuals affected with Cystic Fibrosis (Sosnay_2013). These data indicate that the variant is very likely to be associated with disease. Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000790775 SCV000226733 pathogenic not provided 2017-06-15 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000790775 SCV001134133 pathogenic not provided 2019-02-05 criteria provided, single submitter clinical testing The best available variant frequency is uninformative. Statistically enriched in patients compared to ethnically matched controls. Predicted to negatively affect a known splice site. Nucleotide conservation is uninformative. Assessment of experimental evidence suggests this variant results in abnormal protein function.
Baylor Genetics RCV001004284 SCV001163160 pathogenic Cystic fibrosis; Congenital bilateral aplasia of vas deferens from CFTR mutation criteria provided, single submitter clinical testing
Counsyl RCV000029512 SCV000485272 pathogenic Cystic fibrosis 2016-02-02 no assertion criteria provided clinical testing

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