ClinVar Miner

Submissions for variant NM_016434.3(RTEL1):c.1482-1G>A (rs863225129)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
University of Washington Center for Mendelian Genomics, University of Washington RCV000201560 SCV000256238 pathogenic Idiopathic fibrosing alveolitis, chronic form 2015-05-19 criteria provided, single submitter research
Integrated Genetics/Laboratory Corporation of America RCV000588351 SCV000699743 likely pathogenic Dyskeratosis congenita 2016-06-16 criteria provided, single submitter clinical testing Variant summary: The RTEL1 c.1554-1G>A variant involves the alteration of a conserved intronic nucleotide located at the invariant AG acceptor splice site of intron 17. One in silico tool predicts a damaging outcome while 3/5 splice site tools predict the variant to result in the loss of the acceptor site in intron 17 and additionally, 5/5 tools predict an activation of a cryptic splice site in exon 18 by the variant. It is absent in 117242 control chromosomes and to our knowledge, it was only reported in a family with idiopathic interstitial pneumonia. The affected family members (father and a daughter) carried the variant in heterozygosity. Persons with DKC may develop IPF and it is conceivable that IPF in a young person could be the first manifestation of DKC; thus, DKC should be considered in young persons with IPF (GeneReviews). One clinical diagnostic laboratory has classified this variant as Pathogenic. Taken together, this variant is currently classified as Likely Pathogenic.

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