ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.2563G>A (p.Val855Ile) (rs397508397)

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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 RCV000590758 SCV000696908 uncertain significance not provided 2016-12-27 criteria provided, single submitter clinical testing Variant summary: The CFTR c.2563G>A (p.Val855Ile) variant located in the ABC transporter type 1, transmembrane domain (via InterPro) causes a missense change involving a non-conserved nucleotide, which 4/5 in silico tools predict a benign outcome, although these predictions have yet to be functionally assessed. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 24/121228 (1/5050), which does not exceed the estimated maximal expected allele frequency for a pathogenic CFTR variant of 1/77. Multiple publications have cited the variant in affected individuals diagnosed with asthma, pancreatitis, and suggestive CFTR, however, limited additional information is provided (ie, lack of co-occurrence and cosegregation data). In addition, the variant has been reported to be in cis with R74W (scored VUS by LCA) in multiple individuals. The variant of interest has not been reported by clinical diagnostic laboratories, although HGMD cites the variant as disease causing. Therefore, until additional information becomes available (ie, clinical and functional studies), the variant of interest has been classified as a "Variant of Uncertain Significance (VUS)."
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000577234 SCV000679409 not provided Cystic fibrosis no assertion provided literature only

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