ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.3469-17T>C (rs199630678)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001082947 SCV000074913 benign Cystic fibrosis 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000245337 SCV000304489 likely benign not specified criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000245337 SCV000601101 uncertain significance not specified 2017-05-23 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000245337 SCV000603031 likely benign not specified 2019-04-17 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726749 SCV000702762 uncertain significance not provided 2018-03-15 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000245337 SCV000919176 uncertain significance not specified 2017-11-07 criteria provided, single submitter clinical testing Variant summary: The CFTR c.3469-17T>C variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 156/276124 control chromosomes, including 1 homozygous individual, at a frequency of 0.000565, which does not exceed the estimated maximal expected allele frequency of a pathogenic CFTR variant (0.0129603). The variant has been identified in numerous CF and azoospermatic patients, all without strong evidence for or against pathogenicity. Multiple clinical diagnostic laboratories/reputable databases have classified this variant with conflicting interpretations, including benign, likely benign and uncertain significance. Since the variant is not conserved and has been found in an unaffected homozygous individual, it is classified as VUS-possibly benign until additional functional and clinical data become available.

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