ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.2846A>T (p.His949Leu) (rs397508444)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000577071 SCV001137488 likely pathogenic Cystic fibrosis 2019-05-28 criteria provided, single submitter clinical testing
Johns Hopkins Genomics,Johns Hopkins University RCV000577071 SCV001425365 uncertain significance Cystic fibrosis 2020-05-08 criteria provided, single submitter clinical testing CFTR c.2846A>T has been identified an individual with an equivocal sweat chloride concentration. There is an entry in ClinVar for this variant and it (rs397508444) is rare (<0.1%) in a large population dataset (gnomAD: 5/282786 total alleles; 0.0018%; no homozygotes). Three bioinformatic tools queried predict that this substitution would probably be damaging and the histidine residue at this position is evolutionarily conserved across all species assessed. c.2846A>T has been reported as part of a complex allele on the same chromosome as c.2816A>G in multiple individuals. This patient does not carry this complex allele, as only c.2846A>T is present. Due to insufficient evidence, we consider the clinical significance of c.2846C>T to be uncertain at this time.
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000577071 SCV000679010 not provided Cystic fibrosis no assertion provided literature only

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