Submissions for variant NM_000492.4(CFTR):c.1210-6T>A

dbSNP: rs763339686

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001000391	SCV001157175	likely benign	not specified	2018-12-06	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002354915	SCV002652809	uncertain significance	Cystic fibrosis	2023-08-21	criteria provided, single submitter	clinical testing	The c.1210-6T>A intronic variant results from a T to A substitution 6 nucleotides upstream from coding exon 10 in the CFTR gene. This variant was reported in a Chinese man with congenital bilateral absence of vas deferens (Yuan P et al. Andrology, 2019 05;7:329-340). This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Juno Genomics, Hangzhou Juno Genomics, Inc	RCV004796341	SCV005416785	uncertain significance	Bronchiectasis with or without elevated sweat chloride 1; Cystic fibrosis; Hereditary pancreatitis; Congenital bilateral aplasia of vas deferens from CFTR mutation		criteria provided, single submitter	clinical testing	PM2_Supporting+PM3+PP4
PreventionGenetics, part of Exact Sciences	RCV004545005	SCV004788943	likely benign	CFTR-related disorder	2021-09-13	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).