ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.1475C>T (p.Ser492Phe) (rs121909017)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000007575 SCV000071527 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
Counsyl RCV000007575 SCV000485985 likely pathogenic Cystic fibrosis 2016-03-10 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763571 SCV000894410 pathogenic Bronchiectasis with or without elevated sweat chloride 1; Cystic fibrosis; Hereditary pancreatitis; Congenital bilateral aplasia of vas deferens from CFTR mutation 2018-10-31 criteria provided, single submitter clinical testing
Baylor Genetics RCV001004455 SCV001163500 pathogenic Cystic fibrosis; Congenital bilateral aplasia of vas deferens from CFTR mutation criteria provided, single submitter clinical testing
CFTR-France RCV000007575 SCV001169484 pathogenic Cystic fibrosis 2018-01-29 criteria provided, single submitter curation
Integrated Genetics/Laboratory Corporation of America RCV000007575 SCV001360488 pathogenic Cystic fibrosis 2019-11-22 criteria provided, single submitter clinical testing Variant summary: CFTR c.1475C>T (p.Ser492Phe) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 8e-06 in 251334 control chromosomes (gnomAD). c.1475C>T has been reported in the literature in multiple individuals affected with Cystic Fibrosis (Wine_2001, Alper_2004, McGinniss_2005, Sheridan_2011, Lakeman_2008, Scotet_2002). These data indicate that the variant is very likely to be associated with disease. Functional study, van Goor_2013, found the variant to significantly impede baseline chloride transport and mature CFTR protein production. Three ClinVar submissions (evaluation after 2014) cite the variant twice as pathogenic and once as likely pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
Johns Hopkins Genomics,Johns Hopkins University RCV000007575 SCV001425418 pathogenic Cystic fibrosis 2020-04-22 criteria provided, single submitter clinical testing Disease-causing CFTR variant. See www.CFTR2.org for phenotype information.
OMIM RCV000007575 SCV000027776 pathogenic Cystic fibrosis 1992-06-01 no assertion criteria provided literature only

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