ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.811del (p.Ser271fs) (rs1554380789)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000586650 SCV000697046 likely pathogenic Cystic fibrosis 2016-06-21 criteria provided, single submitter clinical testing Variant summary: The CFTR c.811delT (p.Ser271Leufs) 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. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g. c.948delT/p.F316fs). One in silico tool predicts a damaging outcome for this variant. This variant is absent in 104650 control chromosomes. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as Likely pathogenic until more evidence becomes available.

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