ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.4242+10T>C (rs138642693)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000047113 SCV000075126 benign Cystic fibrosis 2017-12-22 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079004 SCV000110873 benign not specified 2013-05-24 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586293 SCV000697014 uncertain significance not provided 2017-03-08 criteria provided, single submitter clinical testing Variant summary: The CFTR c.4242+10T>C variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a damaging 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 48/118862 control chromosomes, predominantly observed in the African subpopulation at a frequency of 0.004612 (47/10190). This frequency does not exceed the maximal expected allele frequency of a disease causing CFTR allele. The variant was observed in two CF patients in the literature, including one in which a second pathogenic allele was not specified (Marechal_HG_2001) therefore the pathogenicity of the variant of interest remains uncertain. One clinical diagnostic center classifies variant as Benign via ClinVar (without evidence to independently evaluate). In vivo/vitro studies to describe the impact of the variant on splicing were not reported in the literature at the time of scoring. Taken together, more information is necessary to assess the pathogenicity of the variant, therefore it is classified as a variant of uncertain significance until more information becomes available.

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