Submissions for variant NM_000492.4(CFTR):c.88C>T (p.Gln30Ter)

dbSNP: rs397508815

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CFTR2	RCV000577040	SCV000924234	pathogenic	Cystic fibrosis	2017-12-08	reviewed by expert panel	research
Ambry Genetics	RCV000577040	SCV002685553	pathogenic	Cystic fibrosis	2015-08-14	criteria provided, single submitter	clinical testing	The p.Q30* pathogenic mutation (also known as c.88C>T), located in coding exon 2 of the CFTR gene, results from a C to T substitution at nucleotide position 88. This changes the amino acid from a glutamine to a stop codon within coding exon 2. This mutation was first reported in a Spanish individual with a severe CF phenotype, including pancreatic insufficiency and lung colonizations; no second mutation was reported (Chillón M, Hum. Mutat. 1994 ; 3(3):223-30). In addition to the clinical data presented in the literature, since premature stop codons are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).
ClinVar Staff, National Center for Biotechnology Information (NCBI)	RCV000577040	SCV000679483	not provided	Cystic fibrosis		no assertion provided	literature only
Natera, Inc.	RCV001826701	SCV002080069	pathogenic	CFTR-related disorder	2017-03-17	no assertion criteria provided	clinical testing