ClinVar Miner

Submissions for variant NM_001367916.1(MAGT1):c.-20T>C

gnomAD frequency: 0.00004  dbSNP: rs781800228
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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 RCV001874704 SCV002130880 uncertain significance X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia 2023-12-12 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 26 of the MAGT1 protein (p.Ile26Thr). This variant is present in population databases (rs781800228, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with MAGT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1369602). 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 RCV002551068 SCV003719911 uncertain significance Inborn genetic diseases 2021-07-20 criteria provided, single submitter clinical testing The c.77T>C (p.I26T) alteration is located in exon 1 (coding exon 1) of the MAGT1 gene. This alteration results from a T to C substitution at nucleotide position 77, causing the isoleucine (I) at amino acid position 26 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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