ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.1646G>A (p.Ser549Asn) (rs121908755)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000007536 SCV000071528 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
Counsyl RCV000007536 SCV000485212 pathogenic Cystic fibrosis 2016-02-02 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727629 SCV000854905 pathogenic not provided 2018-07-30 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000007536 SCV000696857 pathogenic Cystic fibrosis 2016-04-12 criteria provided, single submitter clinical testing Variant summary: The c.1646G>A variant affects a conserved nucleotide, resulting in amino acid change from Ser to Asn. 4/5 in-silico tools predict this variant to be damaging. This variant is found in 13/120694 control chromosomes at a frequency of 0.0001077, which does not exceed maximal expected frequency of a pathogenic allele (0.0129603). This variant is a well-known pathogenic variant and has been reported in numerous CF patients. Variants affecting same amino acid, i.e. p.Ser549Arg, p.Ser549Ile, have been classified as pathogenic, suggesting Ser549 is critical for CFTR function. In addition, multiple clinical laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant was classified as pathogenic.
OMIM RCV000007536 SCV000027737 pathogenic Cystic fibrosis 1990-07-26 no assertion criteria provided literature only
PharmGKB RCV000211264 SCV000268174 drug response ivacaftor response - Efficacy 2018-03-28 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.

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