Submissions for variant NM_000492.4(CFTR):c.481T>G (p.Tyr161Asp)

dbSNP: rs397508729

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CFTR2	RCV000577278	SCV000924248	pathogenic	Cystic fibrosis	2018-08-31	reviewed by expert panel	research
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000577278	SCV004100078	pathogenic	Cystic fibrosis	2023-09-22	criteria provided, single submitter	clinical testing	Variant summary: CFTR c.481T>G (p.Tyr161Asp) results in a non-conservative amino acid change located in the ABC transporter type 1, transmembrane domain (IPR011527) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 247592 control chromosomes (gnomAD). c.481T>G has been reported in the literature in multiple individuals affected with Cystic Fibrosis (examples: Strandvik_2001, McCague_2019, Terzic_2019). These data indicate that the variant is very likely to be associated with disease. The following publications have been ascertained in the context of this evaluation (PMID: 30888834, 11788090, 31523618). One submitter (expert panel CFTR2) has cited clinical-significance assessments for this variant to ClinVar after 2014 and has classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
ClinVar Staff, National Center for Biotechnology Information (NCBI)	RCV000577278	SCV000679498	not provided	Cystic fibrosis		no assertion provided	literature only