ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.2806C>A (p.Pro936Thr) (rs780528577)

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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 RCV000590465 SCV000696925 uncertain significance not provided 2016-06-17 criteria provided, single submitter clinical testing Variant summary: The CFTR c.2806C>A (p.Pro936Thr) variant involves the alteration of a conserved nucleotide. 3/4 in silico tools predict a damaging outcome for this variant (Polyphen-2 not functioning at the time of scoring). 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may affect multiple ESE sites. However, these predictions have yet to be confirmed by functional studies. This variant was found in 1/121336 control chromosomes at a frequency of 0.0000082, which does not exceed the estimated maximal expected allele frequency of a pathogenic CFTR variant (0.0129603). This variant has been reported in one patient without enough evidence supporting pathogenicity (Poulou_2012). Taken together, this variant is classified as VUS.

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