ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.3469-20T>C (rs373002889)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000595140 SCV000709545 benign not specified 2017-06-22 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000590307 SCV000696971 uncertain significance not provided 2017-01-04 criteria provided, single submitter clinical testing Variant summary: The CFTR c.3469-20T>C variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a disease-causing outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. This variant has been reported in multiple CF and chronic pancreatitis patients in South Asian population in heterozygous state with unknown second variant. This variant was found in 222/118686 control chromosomes (7 homozygotes), predominantly observed in the South Asian subpopulation at a frequency of 0.0132864 (215/16182). This frequency is slightly above the estimated maximal expected allele frequency of a pathogenic CFTR variant (0.0129603), suggesting this may be a benign polymorphism found primarily in the populations of South Asian origin. On the contrary, multiple databases classified this variant as pathogenic. Taken together, this variant is classified as VUS until additional information (i.e. co-occurrence, functional study) becomes available.
OMIM RCV000007649 SCV000027850 pathogenic Cystic fibrosis 2000-07-17 no assertion criteria provided literature only

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