ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.166G>A (p.Glu56Lys) (rs397508256)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000046399 SCV000245908 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
PharmGKB RCV000660826 SCV000783065 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000046399 SCV000696860 likely pathogenic Cystic fibrosis 2016-02-02 criteria provided, single submitter clinical testing
Baylor Genetics RCV001004228 SCV001163104 pathogenic Cystic fibrosis; Congenital bilateral aplasia of vas deferens from CFTR mutation criteria provided, single submitter clinical testing
CFTR-France RCV001009396 SCV001169249 pathogenic Cystic fibrosis; CFTR-related disorders 2018-03-09 criteria provided, single submitter curation when the variant is in trans with another CF-causing variation, can either result in CF or in a CFTR-RD
Invitae RCV000046399 SCV001582754 pathogenic Cystic fibrosis 2020-10-19 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 56 of the CFTR protein (p.Glu56Lys). 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 individual(s) with CFTR-related disorders (PMID: 9272157, 26651825, 24816901). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 53325). This variant has been reported to affect CFTR protein function (PMID: 23891399, 23924900). This variant disrupts the p.Glu56 amino acid residue in CFTR. Other variant(s) that disrupt this residue have been observed in individuals with CFTR-related conditions (PMID: 25910067), which suggests that this may be a clinically significant amino acid residue. For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000046399 SCV000794273 likely pathogenic Cystic fibrosis 2017-10-06 no assertion criteria provided clinical testing

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