ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.2813T>G (p.Val938Gly) (rs193922511)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000029505 SCV000052156 pathogenic Congenital bilateral absence of the vas deferens 2019-05-30 criteria provided, single submitter clinical testing Variant summary: CFTR c.2813T>G (p.Val938Gly) results in a non-conservative amino acid change located in the ABC transporter type 1, transmembrane domain (IPR036640) of 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 1.6e-05 in 251512 control chromosomes, which does not exceed the estimated maximal expected allele frequency of a pathogenic CFTR variant (0.013). c.2813T>G has been reported in the literature in multiple individuals affected with Congenital Absence of the Vas Deferens (CBAVD and CUAVD), once in a homozygous state, and others in a compound heterozygous state with either 174delA (as stated in the paper), p.F508del or deletions of exons 22_23 (Dork_1997, Marcelli_2006, Robin_2007, Ratbi_2007). Because CBAVD/CUAVD is often found in patients with either one severe and one mild mutation or two mild mutations, the presence of this variant in CBAVD/CUAVD patients in trans with 174delA, p.F508del, or deletion of exons 22_23 suggests that the variant may be a "mild" mutation that contributes to disease. This variant has also been reported in patients screened for cystic fibrosis and idiopathic pancreatitis, however has not been identified in classic cases of cystic fibrosis (Sands_2015, Sofia_2016, De Wachter_2017). Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation, and have classified the variant as having uncertain significance. Based on the evidence outlined above, this variant was classified as Pathogenic for CBAVD.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000506921 SCV000601081 uncertain significance not specified 2017-03-16 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000730038 SCV000857746 uncertain significance not provided 2017-10-19 criteria provided, single submitter clinical testing

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