ClinVar Miner

Submissions for variant NM_001367916.1(MAGT1):c.-10A>T

dbSNP: rs1171559934
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001245602 SCV001418900 uncertain significance X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia 2023-02-16 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 970093). This variant has not been reported in the literature in individuals affected with MAGT1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.008%), including at least one homozygous and/or hemizygous individual. This sequence change replaces arginine, which is basic and polar, with serine, which is neutral and polar, at codon 29 of the MAGT1 protein (p.Arg29Ser). 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.

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