ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.4061T>G (p.Met1354Arg)

dbSNP: rs755993775
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000757871 SCV000886388 uncertain significance Cystic fibrosis 2018-11-05 criteria provided, single submitter clinical testing
Invitae RCV000757871 SCV002312597 uncertain significance Cystic fibrosis 2021-10-08 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). ClinVar contains an entry for this variant (Variation ID: 618956). This variant has not been reported in the literature in individuals affected with CFTR-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces methionine with arginine at codon 1354 of the CFTR protein (p.Met1354Arg). The methionine residue is moderately conserved and there is a moderate physicochemical difference between methionine and arginine.

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