ClinVar Miner

Submissions for variant NM_005142.3(CBLIF):c.82G>A (p.Val28Ile)

gnomAD frequency: 0.00068  dbSNP: rs139090732
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001216403 SCV001388199 uncertain significance Hereditary intrinsic factor deficiency 2023-12-18 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 28 of the GIF protein (p.Val28Ile). This variant is present in population databases (rs139090732, gnomAD 0.1%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with GIF-related conditions. ClinVar contains an entry for this variant (Variation ID: 945698). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
Ambry Genetics RCV004033994 SCV004919993 uncertain significance not specified 2021-08-23 criteria provided, single submitter clinical testing The c.82G>A (p.V28I) alteration is located in exon 2 (coding exon 2) of the GIF gene. This alteration results from a G to A substitution at nucleotide position 82, causing the valine (V) at amino acid position 28 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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