ClinVar Miner

Submissions for variant NM_012301.4(MAGI2):c.878C>T (p.Thr293Ile)

gnomAD frequency: 0.00002  dbSNP: rs587780389
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117563 SCV000151781 likely benign not specified 2013-08-01 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000724320 SCV000231107 uncertain significance not provided 2014-11-05 criteria provided, single submitter clinical testing
Invitae RCV000724320 SCV003001980 uncertain significance not provided 2022-06-06 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 C65"). ClinVar contains an entry for this variant (Variation ID: 129555). This variant has not been reported in the literature in individuals affected with MAGI2-related conditions. This variant is present in population databases (rs587780389, gnomAD 0.01%). This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 293 of the MAGI2 protein (p.Thr293Ile).
Ambry Genetics RCV002528219 SCV003641850 uncertain significance Inborn genetic diseases 2022-08-26 criteria provided, single submitter clinical testing The c.878C>T (p.T293I) alteration is located in exon 5 (coding exon 5) of the MAGI2 gene. This alteration results from a C to T substitution at nucleotide position 878, causing the threonine (T) at amino acid position 293 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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