ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.1019T>A (p.Ile340Asn) (rs1554381352)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000589828 SCV000696816 uncertain significance not provided 2017-05-23 criteria provided, single submitter clinical testing Variant summary: The CFTR c.1019T>A (p.Ile340Asn) variant located in the ABC transporter type 1 domain (InterPro) involves the alteration of a conserved nucleotide and 5/5 in silico tools predict a damaging outcome for this variant. This variant is absent from the large control database ExAC (0/121336 control chromosomes). The variant has been bioinformatically assessed for its effect on alternative splicing, where it was found not to introduce an alternative splice site (Ramalho_JCF_2015) and membrane integration, where it was predicted to have an unfavorable effect on integration (Schlebach_2014). A functional study by Enquist_2009 assessed whether the variant could affect membrane insertion and was found to decrease insertion efficicency. A reputable database cites the variant in a CF carrier, however, no additional information is provided. Therefore, due to the limited available information (ie, lack of clinical and functional studies), the variant of interest has been classified as a "Variant of Uncertain Significance (VUS)."

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