ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.80G>T (p.Gly27Val) (rs397508797)

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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 RCV000589825 SCV000697045 uncertain significance not provided 2017-07-19 criteria provided, single submitter clinical testing Variant summary: The CFTR c.80G>T (p.Gly27Val) variant involves the alteration of a conserved nucleotide. 5/5 in silico tools predict a damaging outcome for this variant. The variant of interest has not been found in 120864 control chromosomes (ExAC). A publication, Zietkiewicz_2013 cites the variant in a compound heterozygote CF individual, G27V/deltaF508. Two poster abstracts, Norek_2012 and Panickar_2016, cites the variant in 3 pts (2 homozygotes and 1 single variant identified pt), but these poster abstracts need to be cautiously considered due to limited available information. However, it should be noted another variant at this location, c.80G>A (p.G27E) has been reported in a compound heterozygote individual with a mild phenotype (database: sickkids). Therefore, taking all available lines of evidence, the variant of interest has been classified as a "Variant of Uncertain Significance - Possibly Pathogenic," until additional information becomes available (ie, clinical and functional studies).

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