ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.2939T>A (p.Ile980Lys) (rs397508463)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000586046 SCV000696937 likely pathogenic Congenital bilateral absence of the vas deferens 2017-02-01 criteria provided, single submitter clinical testing Variant summary: The CFTR c.2939T>A (p.Ile980Lys) variant involves the alteration of a conserved nucleotide located in the ABC transporter type 1, transmembrane domain (InterPro). 4/5 in silico tools predict a damaging outcome for this variant. This variant was found in 2/121870 control chromosomes at a frequency of 0.0000164, which does not exceed the estimated maximal expected allele frequency of a pathogenic CFTR variant (0.0129603). The variant has been reported in at least 5 CBAVD patients in the literature, in each patient a second pathogenic variant has been reported. The variant has not been reported with a classification provided from databases or repuable clinical labs. Taken together, this variant is classified as a likely pathogenic variant.
Counsyl RCV000577032 SCV000796476 uncertain significance Cystic fibrosis 2017-12-14 criteria provided, single submitter clinical testing
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000577032 SCV000679364 not provided Cystic fibrosis no assertion provided literature only

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