ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.262_263del (p.Leu88fs) (rs121908769)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000007654 SCV000071483 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000506648 SCV000603009 pathogenic not specified 2016-11-16 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000007654 SCV000696911 pathogenic Cystic fibrosis 2017-02-16 criteria provided, single submitter clinical testing Variant summary: The CFTR c.262_263delTT (p.Leu88Ilefs) variant results in a premature termination codon, predicted to cause a truncated or absent CFTR protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g.p.Glu193X, p.Gln220X). One in silico tool predicts a damaging outcome for this variant. This variant was found in 39/121142 control chromosomes at a frequency of 0.0003219, which does not exceed the estimated maximal expected allele frequency of a pathogenic CFTR variant (0.0129603). This variant has been reported in a large number of CF patients. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant is classified as pathogenic.
Mendelics RCV000007654 SCV000886247 pathogenic Cystic fibrosis 2018-11-05 criteria provided, single submitter clinical testing
Baylor Genetics RCV001004235 SCV001163111 pathogenic Cystic fibrosis; Congenital bilateral aplasia of vas deferens from CFTR mutation criteria provided, single submitter clinical testing
CFTR-France RCV000007654 SCV001169494 pathogenic Cystic fibrosis 2018-01-29 criteria provided, single submitter curation
Myriad Women's Health, Inc. RCV000007654 SCV001194163 pathogenic Cystic fibrosis 2019-11-11 criteria provided, single submitter clinical testing NM_000492.3(CFTR):c.262_263delTT(L88Ifs*22, aka 394delTT) is classified as pathogenic in the context of cystic fibrosis and is associated with the classic form of disease. Sources cited for classification include the following: PMID 23974870. Classification of NM_000492.3(CFTR):c.262_263delTT(L88Ifs*22, aka 394delTT) is based on the following criteria: The variant causes a premature termination codon that is expected to be targeted by nonsense-mediated mRNA decay and is reported in individuals with the relevant phenotype. Please note: this variant was assessed in the context of healthy population screening.‚Äã
Johns Hopkins Genomics,Johns Hopkins University RCV000007654 SCV001371798 pathogenic Cystic fibrosis 2020-01-07 criteria provided, single submitter clinical testing Disease-causing CFTR variant (previously reported for this patient by mass spectrometry genotyping). See www.CFTR2.org for phenotype information.
OMIM RCV000007654 SCV000027855 pathogenic Cystic fibrosis 1994-02-01 no assertion criteria provided literature only

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