ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.1399C>T (p.Leu467Phe) (rs1800089)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000577709 SCV000679106 not provided Cystic fibrosis no assertion provided literature only
Integrated Genetics/Laboratory Corporation of America RCV000588804 SCV000696841 likely benign not provided 2016-11-14 criteria provided, single submitter clinical testing Variant summary: The CFTR c.1399C>T (p.Leu467Phe) variant involves the alteration of a conserved nucleotide. 3/5 in silico tools predict a damaging outcome for this variant. The variant of interest has not, to our knowledge, been evaluated for functional impact by in vivo/vitro studies. This variant was found in 6/121214 control chromosomes at a frequency of 0.0000495, which does not exceed the estimated maximal expected allele frequency of a pathogenic CFTR variant (0.0129603). Although this variant has been observed in three CF patients and 1 CFTR-RD pt; several pts had this variant in cis with a known pathogenic mutation, p.delF508. In other two patients, second mutation is not specified. In another subject who had this variant and p.delF508 with phase unspecified, dx CF was not established. Reported as "rare polymorphism" by multiple authors. At least three internal samples showed that this variant was in cis with p.delF508. Taken together, this variant is classified as likely benign until more evidence becomes available.
Mendelics RCV000577709 SCV000886158 likely pathogenic Cystic fibrosis 2018-11-05 criteria provided, single submitter clinical testing

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