ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.972C>G (p.Pro324=) (rs1799834)

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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 RCV000586351 SCV000697063 uncertain significance not provided 2017-06-13 criteria provided, single submitter clinical testing Variant summary: The CFTR c.972C>G (p.Pro324Pro) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 3/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 2/121284 control chromosomes at a frequency of 0.0000165, which does not exceed the estimated maximal expected allele frequency of a pathogenic CFTR variant (0.0129603). The variant has been reported in the literature, without strong evidence for causality (Petreska 1998, Petreska 1995). Taken together, this variant is classified as VUS-possibly benign until additional clinical and functional evidence becomes available.

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