ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.2406G>C (p.Leu802Phe) (rs1314080734)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000588117 SCV000696898 uncertain significance not provided 2016-05-03 criteria provided, single submitter clinical testing Variant summary: The CFTR c.2406G>C variant affects a non-conserved nucleotide, resulting in amino acid change from Leu to Phe in the cytoplasmic R (regulatory) domain of the CFTR protein (codons 590 to 831) located between the cytoplasmic NBD1 (nucleotide binding domain) and the second transmembrane region. The N terminal portion of the R domain (RD1) is highly conserved between species but there is a lower degree of conservation between the rest of the domain (RD2). 4/5 in-silico tools predict this variant to be benign. This variant is not found in 110534 control chromosomes. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical laboratories; nor evaluated for functional impact by in vivo/vitro studies. Due to the absence of clinical information and the lack of functional studies, the variant was classified as a variant of uncertain significance (VUS) until additional information becomes available.

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