ClinVar Miner

Submissions for variant NM_001367916.1(MAGT1):c.-14G>A

gnomAD frequency: 0.00009  dbSNP: rs374235131
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001512830 SCV001720317 benign X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia 2023-12-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821814 SCV002071977 likely benign not specified 2021-11-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002564314 SCV003736399 uncertain significance Inborn genetic diseases 2022-12-19 criteria provided, single submitter clinical testing The c.83G>A (p.G28E) alteration is located in exon 1 (coding exon 1) of the MAGT1 gene. This alteration results from a G to A substitution at nucleotide position 83, causing the glycine (G) at amino acid position 28 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV003438852 SCV004165901 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing MAGT1: BP4, BS2

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