ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.2835G>A (rs193922513)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001175334 SCV000052158 likely benign not specified 2019-09-20 criteria provided, single submitter clinical testing Variant summary: CFTR c.2835G>A alters a non-conserved nucleotide resulting in a synonymous change. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.00012 in 251388 control chromosomes, predominantly at a frequency of 0.00085 within the South Asian subpopulation in the gnomAD database, including 1 homozygote. This frequency is not significantly higher than expected for a pathogenic variant in CFTR causing Cystic Fibrosis (0.00012 vs 0.013), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.2835G>A in individuals affected with Cystic Fibrosis and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely benign.
Invitae RCV000029507 SCV001013174 benign Cystic fibrosis 2020-12-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV001016567 SCV001177532 likely benign Inborn genetic diseases 2019-06-10 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Illumina Clinical Services Laboratory,Illumina RCV001160120 SCV001321890 uncertain significance CFTR-related disorders 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Natera, Inc. RCV000029507 SCV001465608 likely benign Cystic fibrosis 2020-05-15 no assertion criteria provided clinical testing

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