ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.743G>C (p.Arg248Thr) (rs397508792)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV000577458 SCV001425364 likely pathogenic Cystic fibrosis 2020-05-08 criteria provided, single submitter clinical testing CFTR c.743G>C has been previously identified in individuals with features of cystic fibrosis, but without the classic phenotype. This CFTR variant (rs397508792) is rare (<0.1%) in a large population dataset (gnomAD: 2/251316 total alleles; 0.0008%; no homozygotes). Three bioinformatic tools queried predict that this amino acid substitution would probably be damaging and the arginine residue at this position is evolutionarily conserved across most species assessed. This variant alters the last nucleotide of exon 6 (legacy exon 6a) and bioinformatic analysis predicts that this variant would affect splicing of this exon. However, this has not been confirmed experimentally to our knowledge. We consider c.743G>C to be likely pathogenic.
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000577458 SCV000679507 not provided Cystic fibrosis no assertion provided literature only

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