ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.3763T>C (p.Ser1255Pro) (rs121909041)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000007613 SCV000245924 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
PharmGKB RCV000211376 SCV000268178 drug response Ivacaftor response 2018-03-23 reviewed by expert panel curation PharmGKB Level of Evidence 1A: Annotation for a variant-drug combination in a CPIC or medical society-endorsed PGx guideline, or implemented at a PGRN site or in another major health system.
Counsyl RCV000007613 SCV000486849 likely pathogenic Cystic fibrosis 2016-08-23 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000007613 SCV000696989 pathogenic Cystic fibrosis 2017-07-10 criteria provided, single submitter clinical testing Variant summary: The CFTR variant, c.3763T>C (p.Ser1255Pro) involves a conserved nucleotide located in the nucleotide-binding domain 2 that 4/4 in silico tools predict damaging outcome. This variant is absent in 121154 ExAC chromosomes. This variant was first found in a Belgian CF patient who was compound heterozygous for this variant and p.Phe508del (Lissens_1992). It has also been reported in another two CF patients without detailed genotype information (Claustres_2000, Schrijver_2016). Currently, it has been reported in 10 CF patients in CFTR2 database. Functional studies have shown that S1255P is defective in channel gating as well as chloride transport (Anderson_1992, Choi_2001, Yu_2012). These defects were shown to be compensated by ivacaftor treatment (Yu_2012). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely pathogenic/pathogenic. Taken together, this variant is classified as pathogenic.
OMIM RCV000007613 SCV000027814 pathogenic Cystic fibrosis 1993-01-01 no assertion criteria provided literature only
Natera, Inc. RCV000007613 SCV001454283 pathogenic Cystic fibrosis 2020-09-16 no assertion criteria provided clinical testing

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