ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.4051A>G (p.Lys1351Glu)

dbSNP: rs397508666
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000577427 SCV000799587 uncertain significance Cystic fibrosis 2018-04-26 criteria provided, single submitter clinical testing
Johns Hopkins Genomics, Johns Hopkins University RCV000577427 SCV002051784 uncertain significance Cystic fibrosis 2021-11-11 criteria provided, single submitter clinical testing CFTR c.4051A>G has been previously identified in an individual with congenital bilateral absence of the vas deferens. This variant is absent from a large population dataset, but it has been reported in ClinVar. Of three bioinformatics tools queried, two predict that the substitution would be damaging, while one predicts that it would be tolerated. The lysine residue at this position is evolutionarily conserved in most of the species assessed. We consider the clinical significance of c.4051A>G to be uncertain at this time.
Ambry Genetics RCV000577427 SCV002631909 uncertain significance Cystic fibrosis 2014-08-04 criteria provided, single submitter clinical testing The p.K1351E variant (also known as c.4051A>G), located in coding exon 25 of the CFTR gene, results from an A to G substitution at nucleotide position 4051. The lysine at codon 1351 is replaced by glutamic acid, an amino acid with similar properties. This variant was identified in a German male with congenital bilateral absence of the vas deferens (CBAVD) in conjunction with p.F508del; however, the phase was not provided (Dörk T et al. Hum. Genet., 1997 Sep;100:365-77). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000577427 SCV000679134 not provided Cystic fibrosis no assertion provided literature only

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