ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.547C>A (p.Leu183Ile) (rs397508751)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000781269 SCV000919181 uncertain significance not specified 2018-05-04 criteria provided, single submitter clinical testing Variant summary: CFTR c.547C>A (p.Leu183Ile) results in a conservative amino acid change located in the ABC transporter type 1, transmembrane domain of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.00038 in 119478 control chromosomes. This frequency is not significantly higher than expected for a pathogenic variant in CFTR causing Cystic Fibrosis (0.00038 vs 0.013), allowing no conclusion about variant significance. c.547C>A has been reported in the literature in individuals affected with Cystic Fibrosis or CFTR related disorders. These report(s) do not provide unequivocal conclusions about association of the variant with Cystic Fibrosis. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported, although one study showed this variant did not lead to exon skipping (Aissat_2013). 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 uncertain significance.
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000577598 SCV000679502 not provided Cystic fibrosis no assertion provided literature only

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