ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.3564G>A (p.Ser1188=) (rs146804928)

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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 RCV000078998 SCV000110867 uncertain significance not provided 2013-06-20 criteria provided, single submitter clinical testing
Counsyl RCV000666455 SCV000790751 likely benign Cystic fibrosis 2017-04-06 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000780156 SCV000917203 uncertain significance not specified 2018-05-07 criteria provided, single submitter clinical testing Variant summary: CFTR c.3564G>A alters a non-conserved nucleotide resulting in a synonymous change. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.00012 in 276220 control chromosomes (gnomAD). This frequency is not higher than expected for a pathogenic variant in CFTR causing Cystic Fibrosis (0.00012 vs 0.013), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.3564G>A in individuals affected with Cystic Fibrosis and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as VUS-possibly benign.

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