ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.2252G>A (p.Arg751His)

gnomAD frequency: 0.00001  dbSNP: rs397508357
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000757861 SCV000886373 uncertain significance Cystic fibrosis 2018-11-05 criteria provided, single submitter clinical testing
Invitae RCV000757861 SCV002196030 uncertain significance Cystic fibrosis 2023-07-07 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 618950). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CFTR protein function. This variant has not been reported in the literature in individuals affected with CFTR-related conditions. This variant is present in population databases (rs397508357, gnomAD 0.003%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 751 of the CFTR protein (p.Arg751His).
Ambry Genetics RCV000757861 SCV002732185 uncertain significance Cystic fibrosis 2020-01-27 criteria provided, single submitter clinical testing The p.R751H variant (also known as c.2252G>A), located in coding exon 14 of the CFTR gene, results from a G to A substitution at nucleotide position 2252. The arginine at codon 751 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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