ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.2906C>T (p.Ala969Val)

dbSNP: rs936934088
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV001250518 SCV001425312 uncertain significance Cystic fibrosis 2020-03-09 criteria provided, single submitter clinical testing CFTR c.2906C>T has not been reported in patients with cystic fibrosis to our knowledge and it is absent from a large population dataset. Three bioinformatic tools predict that this substitution would be tolerated, however the alanine residue at this position is evolutionarily conserved across many of the species assessed. Bioinformatic analysis predicts that this missense variant may affect normal exon 17 (legacy exon 15) splicing, but this has not been confirmed experimentally to our knowledge. We consider the clinical significance of c.2906C>T to be uncertain at this time.

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