ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.443T>C (p.Ile148Thr) (rs35516286)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000047138 SCV000075151 benign Cystic fibrosis 2019-12-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079009 SCV000110878 benign not specified 2012-08-06 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000079009 SCV000304500 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001095251 SCV000466503 uncertain significance CFTR-related disorders 2018-03-06 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000079009 SCV000603005 benign not specified 2018-12-13 criteria provided, single submitter clinical testing
Counsyl RCV000047138 SCV000790922 likely benign Cystic fibrosis 2017-04-14 criteria provided, single submitter clinical testing
SIB Swiss Institute of Bioinformatics RCV000047138 SCV000803630 uncertain significance Cystic fibrosis 2018-05-31 criteria provided, single submitter curation This variant is interpreted as a Uncertain Significance - Conflicting Evidence, for Cystic fibrosis, in Autosomal Recessive manner. The following ACMG Tag(s) were applied: PS3 => Well-established functional studies show a deleterious effect (PMID:16822950,11242048). BS2 => Observed in a healthy adult individual for a recessive (homozygous), dominant (heterozygous), or X-linked (hemizygous) disorder, with full penetrance expected at an early age. PM2 => Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. BP2 => Observed in trans with a pathogenic variant for a fully penetrant dominant gene/disorder or observed in cis with a pathogenic variant in any inheritance pattern (PMID:12394343).
Mendelics RCV000047138 SCV000886144 uncertain significance Cystic fibrosis 2018-11-05 criteria provided, single submitter clinical testing
CFTR-France RCV000047138 SCV001169190 benign Cystic fibrosis 2018-01-29 criteria provided, single submitter curation the variant does not result in CFTR-RD neither
Ambry Genetics RCV001022482 SCV001184227 benign Inborn genetic diseases 2015-03-13 criteria provided, single submitter clinical testing
Johns Hopkins Genomics,Johns Hopkins University RCV000047138 SCV001425332 benign Cystic fibrosis 2019-06-25 criteria provided, single submitter clinical testing

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