ClinVar Miner

Submissions for variant NM_005142.3(CBLIF):c.482T>G (p.Leu161Arg)

gnomAD frequency: 0.00001  dbSNP: rs200856492
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000817705 SCV000958283 uncertain significance Hereditary intrinsic factor deficiency 2022-02-18 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 161 of the GIF protein (p.Leu161Arg). This variant is present in population databases (rs200856492, gnomAD 0.005%). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 660502). This variant has not been reported in the literature in individuals affected with GIF-related conditions.

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