ClinVar Miner

Submissions for variant NM_001367916.1(MAGT1):c.-9G>A

gnomAD frequency: 0.00001  dbSNP: rs868929451
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623664 SCV000741356 uncertain significance Inborn genetic diseases 2016-04-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001860428 SCV002174910 uncertain significance X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia 2023-12-18 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 30 of the MAGT1 protein (p.Gly30Arg). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 520979). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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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