ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.328G>C (p.Asp110His) (rs113993958)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000007527 SCV000071497 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
Counsyl RCV000007527 SCV000220934 likely pathogenic Cystic fibrosis 2014-12-05 criteria provided, single submitter literature only
Integrated Genetics/Laboratory Corporation of America RCV000780153 SCV000917200 pathogenic not specified 2017-11-20 criteria provided, single submitter clinical testing Variant summary: The CFTR c.328G>C (p.Asp110His) variant involves the alteration of a conserved nucleotide that is located in the ABC transporter type 1, transmembrane domain (InterPro). 5/5 in silico tools predict a damaging outcome for this variant. This variant was found in 5/245956 control chromosomes at a frequency of 0.0000203, which does not exceed the estimated maximal expected allele frequency of a pathogenic CFTR variant (0.0129603). Compound heterozygotes and homozygotes for this variant have been found in numerous patients with CBAVD, CF, and in pt with clinical findings suggestive of CF. A functional study showed that baseline chloride transport in CFTR-D110H transfected FRT cells was 9.1% of that in WT-CFTR transfected FRT cells (Van Goor_2013), indicating that D110H significantly affects normal function of CFTR. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant is classified as pathogenic.
OMIM RCV000007527 SCV000027728 pathogenic Cystic fibrosis 1991-01-01 no assertion criteria provided literature only
PharmGKB RCV000660769 SCV000783008 drug response ivacaftor response - Efficacy 2018-03-22 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.
SNPedia RCV000058930 SCV000090451 not provided not provided no assertion provided not provided

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