ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.3458T>A (p.Val1153Glu) (rs397508567)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000577089 SCV000916189 uncertain significance Cystic fibrosis 2018-08-17 criteria provided, single submitter clinical testing The CFTR c.3458T>A (p.Val1153Glu) missense variant has been reported in four individuals, including in a compound heterozygous state with an intron variant in one individual with congenital bilateral absence of the vas deference (CBAVD), and in a heterozygous state without a second identified variant in one individual with cystic fibrosis, in one individual with CBAVD, and in one individual with allergic bronchopulmonary aspergillosis (Dörk et al. 1997; Padoan et al. 2002; Ratbi et al. 2007; Lebecque et al. 2011). Control data are unavailable for this variant, which is reported at a frequency of 0.00008 in the European (non-Finnish) population of the Exome Aggregation Consortium. Residue Val1153 is located in transmembrane domain 12 of the CFTR channel, and expressing an alanine substitution at this residue in patch excised inside-out macropatches and single-channel patches from Xenopus oocytes resulted in altered pore properties and suggested that residue 1153 is located toward the intracellular side of the channel pore (Cui et al. 2012). Evidence for this variant is limited, and individuals with this variant in different molecular states have been reported with variable CFTR-related phenotypes. Therefore, the p.Val1153Glu variant is classified as a variant of unknown significance but suspicious for pathogenicity for CFTR-related disorders. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
CFTR-France RCV001009502 SCV001169597 pathogenic CFTR-related disorders 2018-01-29 criteria provided, single submitter curation
Mayo Clinic Laboratories, Mayo Clinic RCV001508225 SCV001714252 uncertain significance not provided 2020-08-06 criteria provided, single submitter clinical testing
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000577089 SCV000679440 not provided Cystic fibrosis no assertion provided literature only

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