ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.577G>A (p.Glu193Lys) (rs397508759)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PharmGKB RCV000660831 SCV000783070 drug response ivacaftor response - Efficacy 2018-03-22 reviewed by expert panel curation PharmGKB Level of Evidence 1A: Annotation for a variant-drug combination in a CPIC or medical society-endorsed PGx guideline, or implemented at a PGRN site or in another major health system.
Mendelics RCV000577109 SCV000886299 pathogenic Cystic fibrosis 2018-11-05 criteria provided, single submitter clinical testing
Invitae RCV000577109 SCV001577106 likely pathogenic Cystic fibrosis 2019-07-10 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 193 of the CFTR protein (p.Glu193Lys). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with cystic fibrosis or congenital bilateral absence of the vas deferrens (PMID: 7544319, 7529962). ClinVar contains an entry for this variant (Variation ID: 54006). This variant has been reported to affect CFTR protein function (PMID: 9305991, 23891399, 19491324). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000577109 SCV000679503 not provided Cystic fibrosis no assertion provided literature only

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