ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.305T>G (p.Leu102Arg) (rs397508490)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000669903 SCV000924244 pathogenic Cystic fibrosis 2018-08-31 reviewed by expert panel research
Counsyl RCV000669903 SCV000794703 uncertain significance Cystic fibrosis 2017-10-24 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001174826 SCV001338191 uncertain significance not specified 2020-02-27 criteria provided, single submitter clinical testing Variant summary: CFTR c.305T>G (p.Leu102Arg) results in a non-conservative amino acid change located in the ABC transporter type 1, transmembrane domain (IPR011527) 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 4e-06 in 251112 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.305T>G has been reported in the literature in at least one infant affected with Cystic Fibrosis (Kharazzi_2016, Salinas_2016), as well as in one internal sample in a patient reportedly affected with cystic fibrosis. In at least two individuals, the variant has been reported to occur in cis with another CFTR variant of uncertain clinical significance (c.3047T>C ; p.Phe1016Ser, internal testing). These data do not allow any conclusion about variant significance. At least one publication reports experimental evidence evaluating an impact on protein function, however, does not allow convincing conclusions about the variant effect (Enquist_2009). Two ClinVar submitters (evaluation after 2014) cited the variant as pathogenic (n=1) and uncertain significance (n=1). Based on the evidence outlined above, the variant was classified as uncertain significance.

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