ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.1703T>A (p.Leu568Ter) (rs397508273)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000046430 SCV000486840 likely pathogenic Cystic fibrosis 2016-08-22 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000046430 SCV000919146 likely pathogenic Cystic fibrosis 2019-11-22 criteria provided, single submitter clinical testing Variant summary: CFTR c.1703T>A (p.Leu568X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 250456 control chromosomes (gnomAD). c.1703T>A has been reported in the literature in at least one individual affected with Cystic Fibrosis (e.g.. Macek_1997). These data do not allow any conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One other ClinVar submitter (evaluation after 2014) cites the variant as likely pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic.
Invitae RCV000046430 SCV001580678 pathogenic Cystic fibrosis 2020-09-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu568*) in the CFTR gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with cystic fibrosis. This variant is also known as c.1835T>A in the literature. ClinVar contains an entry for this variant (Variation ID: 53348). Loss-of-function variants in CFTR are known to be pathogenic (PMID: 1695717, 7691345, 9725922). For these reasons, this variant has been classified as Pathogenic.

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