ClinVar Miner

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

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000587040 SCV000704123 uncertain significance not provided 2016-12-05 criteria provided, single submitter clinical testing
Counsyl RCV000577296 SCV000796009 uncertain significance Cystic fibrosis 2017-11-27 criteria provided, single submitter clinical testing
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.
Ambry Genetics RCV001016547 SCV001177512 uncertain significance Inborn genetic diseases 2018-06-14 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000577296 SCV000679359 not provided Cystic fibrosis no assertion provided literature only

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