ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.1196C>T (p.Ala399Val) (rs146463120)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000589155 SCV000696824 uncertain significance not provided 2017-01-11 criteria provided, single submitter clinical testing Variant summary: The CFTR c.1196C>T (p.Ala399Val) variant involves the alteration of a conserved nucleotide. 5/5 in silico tools predict a damaging outcome for this variant. This variant was found in 16/117836 control chromosomes at a frequency of 0.0001358, which does not exceed the estimated maximal expected allele frequency of a pathogenic CFTR variant (0.0129603). The variant has been reported in a patient with apparently idiopathic pancreatitis, and is cited in the SickKids database in a patient with disseminated bronchiectasis with a normal sweat chloride concentration. Until additional clinical and/or functional data becomes available, this variant is classified as VUS.
Counsyl RCV000669005 SCV000793699 uncertain significance Cystic fibrosis 2017-08-28 criteria provided, single submitter clinical testing

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