ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.1724T>A (p.Phe575Tyr) (rs773569201)

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Total submissions: 2
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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.

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