ClinVar Miner

Submissions for variant NM_001127671.2(LIFR):c.1357T>C (p.Trp453Arg)

gnomAD frequency: 0.00001  dbSNP: rs201516825
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000391166 SCV000333629 uncertain significance not provided 2015-08-14 criteria provided, single submitter clinical testing
Invitae RCV000391166 SCV003481320 uncertain significance not provided 2022-07-30 criteria provided, single submitter clinical testing This sequence change replaces tryptophan, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 453 of the LIFR protein (p.Trp453Arg). This variant is present in population databases (rs201516825, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with LIFR-related conditions. ClinVar contains an entry for this variant (Variation ID: 282262). 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 disruptive. 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.

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