ClinVar Miner

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

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Total submissions: 2
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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
Integrated Genetics/Laboratory Corporation of America RCV000781240 SCV000919146 likely pathogenic not specified 2017-11-16 criteria provided, single submitter clinical testing Variant summary: The CFTR c.1703T>A (p.Leu568X) variant results in a premature termination codon, predicted to cause a truncated or absent CFTR protein due to nonsense mediated decay, which are commonly known mechanisms for disease. One in silico tool predicts a damaging outcome for this variant. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g. c.1742dupT (p.Leu581fsX8), c.1753G>T (p.Glu585X), c.1792_1798delAAAACTA (p.Lys598fsX11)). This variant, has been reported in one CF patient with South Asian ethnicity (Macek 1997) in a heterozygous state with a pathogenic second variant (deltaF508). This variant is absent in 245406 control chromosomes (gnomAD). In addition, one diagnostic laboratory classified this variant as likely pathogenic. Taken together, this variant is classified as likely pathogenic.

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