ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.2526A>G (p.Ala842=) (rs758128209)

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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 RCV000590672 SCV000696905 uncertain significance not provided 2017-04-05 criteria provided, single submitter clinical testing Variant summary: The CFTR c.2526A>G (p.Ala842Ala) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. Mutation taster predicts a damaging outcome for this variant. This variant, lying 93 nucleotides upstream to the consensus splice donor site in intron 15, is predicted to create a de novo splice donor site by 4/5 splice prediction tools. ESE finder predicts that this variant creates a binding site of SF2/ASF. However, these predictions have yet to be confirmed by functional studies. This variant was found in 1/121230 control chromosomes from ExAC at a frequency of 0.0000082, which does not exceed the estimated maximal expected allele frequency of a pathogenic CFTR variant (0.0062697). The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories. Taken together, this variant is currently classified as a variant of uncertain clinical significance (VUS).

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