Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000759033 | SCV000888074 | uncertain significance | not provided | 2018-07-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000803536 | SCV000943414 | uncertain significance | Cystic fibrosis | 2018-12-28 | criteria provided, single submitter | clinical testing | This sequence change replaces phenylalanine with tyrosine at codon 575 of the CFTR protein (p.Phe575Tyr). The phenylalanine residue is moderately conserved and there is a small physicochemical difference between phenylalanine and tyrosine. This variant is present in population databases (rs773569201, ExAC 0.002%). This variant has been observed in an individual affected with recurrent pancreatitis (PMID: 17003641). This variant has been reported to affect CFTR protein function (PMID: 29805046). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |