ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.1658G>A (p.Arg553Gln)

gnomAD frequency: 0.00003  dbSNP: rs121909044
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000007646 SCV000800553 uncertain significance Cystic fibrosis 2017-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000007646 SCV003281455 uncertain significance Cystic fibrosis 2022-04-12 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 553 of the CFTR protein (p.Arg553Gln). This variant is present in population databases (rs121909044, gnomAD 0.3%). This missense change has been observed in individual(s) with clinical features of CFTR-related conditions (PMID: 1284534, 1715308, 7545856, 19176844). ClinVar contains an entry for this variant (Variation ID: 7225). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
OMIM RCV000007646 SCV000027847 pathogenic Cystic fibrosis 1997-02-13 no assertion criteria provided literature only

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