ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.2770G>A (p.Asp924Asn) (rs201759207)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000587040 SCV000883572 uncertain significance not provided 2017-06-27 criteria provided, single submitter clinical testing The CFTR c.2770G>A; p.Asp924Asn variant (rs201759207) has been reported in cystic fibrosis patients, but its clinical significance was not determined (Alonso 2006, Zietkiewicz 2014). It is listed in ClinVar (Variation ID: 53565) and observed in the general population at an overall frequency of 0.009% (25/277152 alleles) in the Genome Aggregation Database. The aspartic acid at codon 924 is highly conserved, but computational algorithms (PolyPhen-2: probably damaging; SIFT: tolerated) are inconclusive on the variant's impact on the protein. Due to the limited information regarding this variant, its clinical significance cannot be determined with certainty. References: Alonso M et al. Spectrum of mutations in the CFTR gene in cystic fibrosis patients of Spanish ancestry. Ann Hum Genet. 2007; 71(Pt 2):194-201. Zietkiewicz E et al. CFTR mutations spectrum and the efficiency of molecular diagnostics in Polish cystic fibrosis patients. PLoS One. 2014; 9(2):e89094.
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000577296 SCV000679359 not provided Cystic fibrosis no assertion provided literature only
Counsyl RCV000577296 SCV000796009 uncertain significance Cystic fibrosis 2017-11-27 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000587040 SCV000704123 uncertain significance not provided 2016-12-05 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587040 SCV000696923 uncertain significance not provided 2017-06-27 criteria provided, single submitter clinical testing Variant summary: The CFTR c.2770G>A (p.Asp924Asn) variant involves the alteration of a conserved nucleotide located in the ABC transporter type 1, transmembrane domain of the protein (InterPro). 3/4 in silico tools predict a damaging outcome for this variant. This variant was found in 9/121314 control chromosomes at a frequency of 0.0000742, which does not exceed the estimated maximal expected allele frequency of a pathogenic CFTR variant (0.0129603). The variant has been reported in 2 CF patients in the literature, withouth a detected second variant and lacking co-segregation data (Alonso_2007, Zietkiewicz_2013). The variant was also reported in a case study of a chronic pancreatitis patient along with 5T in trans (Koyano_2010). One other clinical lab classified this variant as VUS, without evidence for independent evaluation. Taken together, this variant is currently classified as VUS until additional evidence becomes available.

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