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

Total submissions: 2

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