ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.273G>C (p.Gly91=) (rs773739166)

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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 RCV000587955 SCV000696895 likely pathogenic Cystic fibrosis 2016-06-01 criteria provided, single submitter clinical testing Variant summary: The CFTR c.273G>C (p.Gly91Gly) variant involves the alteration of the last nucleotide of exon 3, resulting in a synonymous change. One in silico tool predicts damaging outcome for this variant. 4/5 splice prediction tools predict that this variant significantly abolishe or weaken the 3' splicing donor site. This prediction has been confirmed by cDNA analysis in a 9-year-old CF patient (Tomaiuolo_2015), who had positive sweat chloride test and pancreatitis. The variant of interest is absent in 120908 control chromosomes from ExAC. One reputable database has classified it as disease-causing. Taken together, this variant is classified as a Likely Pathogenic.

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