ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.3281_3367+268delinsTGTTAA (rs1554392248)

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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 RCV000577052 SCV000696962 likely pathogenic Cystic fibrosis 2017-08-07 criteria provided, single submitter clinical testing Variant summary: This CFTR c.3281_3367+268del355insTGTTAA variant leads to partial deletion of exon 20 overlapping the splice-donor site. This would either lead to a deletion of 28 amino acids from exon 20 and subsequently would be predicted to impact the proteins function or affect normal splicing. [Prediction from splice-site tools via Alamut was not applicable for this variant.] Additionally, missense and nonsense mutations overlapping with this deletion have been classified as pathogenic (e.g. p.Met1101Lys and p.Glu1104X). This variant has been reported in one classic CF patient who carried R553X in other allele (Niel_JMD_2004) and in an additional patient with CF (variant on other allele was not specified; Ferec_EJHG_2006). Another deletion variant which involves complete deletion of exon 20 has also been reported in a CF patient (PMID: 8682493). Based on the nature of this variant and its finding in two CF patients, it has been classified as likely pathogenic.
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000577052 SCV000679047 not provided Cystic fibrosis no assertion provided literature only

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