ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.441C>G (p.His147Gln)

gnomAD frequency: 0.00001  dbSNP: rs759310470
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001241142 SCV001414137 uncertain significance Cystic fibrosis 2021-10-18 criteria provided, single submitter clinical testing This sequence change replaces histidine with glutamine at codon 147 of the CFTR protein (p.His147Gln). The histidine residue is moderately conserved and there is a small physicochemical difference between histidine and glutamine. This variant is present in population databases (rs759310470, ExAC 0.002%). This variant has not been reported in the literature in individuals affected with CFTR-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
CeGaT Center for Human Genetics Tuebingen RCV001310595 SCV001500459 uncertain significance not provided 2020-08-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001241142 SCV002027350 uncertain significance Cystic fibrosis 2021-09-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV001241142 SCV002632024 uncertain significance Cystic fibrosis 2021-04-30 criteria provided, single submitter clinical testing The p.H147Q variant (also known as c.441C>G), located in coding exon 4 of the CFTR gene, results from a C to G substitution at nucleotide position 441. The histidine at codon 147 is replaced by glutamine, 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.
Natera, Inc. RCV001828969 SCV002080143 uncertain significance CFTR-related disorders 2019-06-14 no assertion criteria provided clinical testing

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